Human Growth Hormone
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Cell Division
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Dwarfism, Pituitary
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Corneal Edema
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Infant, Newborn
Newborn with klinefelter syndrome and posterior urethral valves (with Timothy B. Hopkins), Urology (2008)
We describe the case of a 10-day-old term infant with 47,XXY, in association with posterior...
Hyperthyroidism
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Eye Abnormalities
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Vitamin D Deficiency
Is vitamin D deficiency a feature of pediatric celiac disease? (with Jeffrey Villanueva and Louise Maranda), Journal of Pediatric Endocrinology and Metabolism (2012)
Background: Celiac disease (CD) is an autoimmune enteropathy characterized by villus atrophy and malabsorption of...
Does Hepatic Dysfunction Worsen Glucose Homeostasis by Impairing Vitamin D Metabolism?, Vitamins & Trace Elements (2012)
The Management of diabetes mellitus (DM) remains an enigma even though the symptoms of the...
Hepatic dysfunction is associated with vitamin D deficiency and poor glycemic control in diabetes mellitus (with Zheni G. Stavre, Louise Maranda, Karen Cullen, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2012)
Background/Aims: The effect of the rising prevalence of nonalcoholic fatty liver disease on the 25-hydroxylation...
Multifetal Pregnancy May Increase the Risk for Severe Maternal and Neonatal Vitamin D Deficiency (with Leslie A. Soyka, Amanda Angelescu, Olga T. Hardy, and Mary M. Lee), Endocrinologist (2008)
Vitamin D deficiency is prevalent in pregnant women. This deficiency could be exaggerated in multifetal...
Abnormalities, Multiple
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
*Genetic Predisposition to Disease
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Insulin
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Diabetes Mellitus, Type 2
Double Diabetes: The Search for a Treatment Paradigm in Children and Adolescents, Hot Topics in Endocrine and Endocrine-Related Diseases (2013)
Discusses double diabetes -- the coexistence of features of both type 1 and type 2...
Double Diabetes: The Evolving Treatment Paradigm in Children and Adolescents, Vitamins and Trace Elements (2013)
The global pandemic of obesity in children and adolescents has resulted in a new expression...
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome (with Seema Adhami and Alan D. Rogol), Journal of Pediatric Endocrinology and Metabolism (2012)
Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge...
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Germ-Line Mutation
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Insulin-Like Growth Factor I
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
*Frameshift Mutation
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Growth
Pediatrics for Parents Podcast Show 107: Short Stature (Audio File), Endocrinology/Diabetes (2010)
Interview (mp3 audio file, 13 MB, 29 minutes) by Benjamin Nwosu, MD with Rich Sagall,...
Evaluation of short and tall stature in children (with Mary M. Lee), American family physician (2008)
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard...
Weight Gain
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Hyperglycemia
Do Atypical Antipsychotic Agents Trigger Autoimmune Diabetes? (with Olga T. Hardy, Amanda Angelescu, Leslie A. Soyka, and Mary M. Lee), Endocrinologist (2009)
Atypical or second-generation antipsychotic agents, such as aripiprazole and olanzapine, are increasingly used in the...
Growth Hormone
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Receptors, Thyrotropin
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Thyroxine
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Hypocalcemia
Multifetal Pregnancy May Increase the Risk for Severe Maternal and Neonatal Vitamin D Deficiency (with Leslie A. Soyka, Amanda Angelescu, Olga T. Hardy, and Mary M. Lee), Endocrinologist (2008)
Vitamin D deficiency is prevalent in pregnant women. This deficiency could be exaggerated in multifetal...
Pseudohypoparathyroidism
Pseudohypoparathyroidism in Children, Endocrinology/Diabetes (2011)
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Insulin-Like Growth Factor Binding Protein 3
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Adrenergic alpha-Agonists
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Humans
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Newborn with klinefelter syndrome and posterior urethral valves (with Timothy B. Hopkins), Urology (2008)
We describe the case of a 10-day-old term infant with 47,XXY, in association with posterior...
Evaluation of short and tall stature in children (with Mary M. Lee), American family physician (2008)
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard...
Female
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Evaluation of short and tall stature in children (with Mary M. Lee), American family physician (2008)
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard...
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Antipsychotic Agents
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Do Atypical Antipsychotic Agents Trigger Autoimmune Diabetes? (with Olga T. Hardy, Amanda Angelescu, Leslie A. Soyka, and Mary M. Lee), Endocrinologist (2009)
Atypical or second-generation antipsychotic agents, such as aripiprazole and olanzapine, are increasingly used in the...
*Mutation
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Molecular Sequence Data
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Mice
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Dwarfism
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Arginine
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Diabetes Mellitus, Type 1
Double Diabetes: The Search for a Treatment Paradigm in Children and Adolescents, Hot Topics in Endocrine and Endocrine-Related Diseases (2013)
Discusses double diabetes -- the coexistence of features of both type 1 and type 2...
Double Diabetes: The Evolving Treatment Paradigm in Children and Adolescents, Vitamins and Trace Elements (2013)
The global pandemic of obesity in children and adolescents has resulted in a new expression...
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome (with Seema Adhami and Alan D. Rogol), Journal of Pediatric Endocrinology and Metabolism (2012)
Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge...
Do Atypical Antipsychotic Agents Trigger Autoimmune Diabetes? (with Olga T. Hardy, Amanda Angelescu, Leslie A. Soyka, and Mary M. Lee), Endocrinologist (2009)
Atypical or second-generation antipsychotic agents, such as aripiprazole and olanzapine, are increasingly used in the...
Base Sequence
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Levodopa
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Protein Structure, Tertiary
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Obesity
Double Diabetes: The Search for a Treatment Paradigm in Children and Adolescents, Hot Topics in Endocrine and Endocrine-Related Diseases (2013)
Discusses double diabetes -- the coexistence of features of both type 1 and type 2...
Double Diabetes: The Evolving Treatment Paradigm in Children and Adolescents, Vitamins and Trace Elements (2013)
The global pandemic of obesity in children and adolescents has resulted in a new expression...
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Body Weight
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Animals
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Hypothyroidism
Hypothyroidism in children and adolescents, Pediatrics for Parents (2010)
Hypothyroidism is a term that describes insufficient levels or absolute lack of thyroid hormone in...
Family Health
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Fibrous Dysplasia, Polyostotic
Pseudohypoparathyroidism in Children, Endocrinology/Diabetes (2011)
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...
Vitamin D
Serum 25-hydroxyvitamin D levels do not correlate with asthma severity in a case-controlled study of children and adolescents (with Jennifer Menon and Louise Maranda), Journal of Pediatric Endocrinology and Metabolism (2012)
Background: There is no consensus on the association between vitamin D and asthma.
Objective: To...
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Growth Plate
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Child, Preschool
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Metabolism
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Adolescent
Double Diabetes: The Search for a Treatment Paradigm in Children and Adolescents, Hot Topics in Endocrine and Endocrine-Related Diseases (2013)
Discusses double diabetes -- the coexistence of features of both type 1 and type 2...
Double Diabetes: The Evolving Treatment Paradigm in Children and Adolescents, Vitamins and Trace Elements (2013)
The global pandemic of obesity in children and adolescents has resulted in a new expression...
Pseudohypoparathyroidism in Children, Endocrinology/Diabetes (2011)
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Pediatrics for Parents Podcast Show 107: Short Stature (Audio File), Endocrinology/Diabetes (2010)
Interview (mp3 audio file, 13 MB, 29 minutes) by Benjamin Nwosu, MD with Rich Sagall,...
*Health Behavior
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Telomere
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Retrospective Studies
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Prospective Studies
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Cyclic AMP
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Puberty
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
*Body Height
Evaluation of short and tall stature in children (with Mary M. Lee), American family physician (2008)
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard...
Pupil Disorders
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Pregnancy, Multiple
Multifetal Pregnancy May Increase the Risk for Severe Maternal and Neonatal Vitamin D Deficiency (with Leslie A. Soyka, Amanda Angelescu, Olga T. Hardy, and Mary M. Lee), Endocrinologist (2008)
Vitamin D deficiency is prevalent in pregnant women. This deficiency could be exaggerated in multifetal...
Klinefelter Syndrome
Newborn with klinefelter syndrome and posterior urethral valves (with Timothy B. Hopkins), Urology (2008)
We describe the case of a 10-day-old term infant with 47,XXY, in association with posterior...
Growth Hormone-Releasing Hormone
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Growth Disorders
Pediatrics for Parents Podcast Show 107: Short Stature (Audio File), Endocrinology/Diabetes (2010)
Interview (mp3 audio file, 13 MB, 29 minutes) by Benjamin Nwosu, MD with Rich Sagall,...
Evaluation of short and tall stature in children (with Mary M. Lee), American family physician (2008)
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard...
Body Height
Pediatrics for Parents Podcast Show 107: Short Stature (Audio File), Endocrinology/Diabetes (2010)
Interview (mp3 audio file, 13 MB, 29 minutes) by Benjamin Nwosu, MD with Rich Sagall,...
DNA Mutational Analysis
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
*Insulin Resistance
Pseudohypoparathyroidism type 1a and insulin resistance in a child (with Mary M. Lee), Nature reviews. Endocrinology (2009)
Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the...
Clonidine
Short stature with normal growth hormone stimulation testing: lack of evidence for partial growth hormone deficiency or insensitivity (with Marilena Coco, Joy Jones, Kevin M. Barnes, Jack A. Yanovski, and Jeffrey Baron), Hormone research (2004)
OBJECTIVES: To test the hypothesis that children with short stature and peak stimulated GH (pGH)...
Chondrocytes
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Urethra
Newborn with klinefelter syndrome and posterior urethral valves (with Timothy B. Hopkins), Urology (2008)
We describe the case of a 10-day-old term infant with 47,XXY, in association with posterior...
*Risk Reduction Behavior
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Male
Evidence of insulin-like growth factor binding protein-3 proteolysis during growth hormone stimulation testing (with Leslie A. Soyka, Amanda Angelescu, and Mary M. Lee), Journal of pediatric endocrinology and metabolism : JPEM (2011)
OBJECTIVES: The ternary complex is composed of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-3...
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Newborn with klinefelter syndrome and posterior urethral valves (with Timothy B. Hopkins), Urology (2008)
We describe the case of a 10-day-old term infant with 47,XXY, in association with posterior...
Evaluation of short and tall stature in children (with Mary M. Lee), American family physician (2008)
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard...
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Adult
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Osteogenesis Imperfecta
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
*Family
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Cell Line
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism (with Loukas Gourgiotis, Marvin C. Gershengorn, and Susanne Neumann), Thyroid : official journal of the American Thyroid Association (2006)
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered...
Atrophy
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Child
Double Diabetes: The Search for a Treatment Paradigm in Children and Adolescents, Hot Topics in Endocrine and Endocrine-Related Diseases (2013)
Discusses double diabetes -- the coexistence of features of both type 1 and type 2...
Double Diabetes: The Evolving Treatment Paradigm in Children and Adolescents, Vitamins and Trace Elements (2013)
The global pandemic of obesity in children and adolescents has resulted in a new expression...
Is vitamin D deficiency a feature of pediatric celiac disease? (with Jeffrey Villanueva and Louise Maranda), Journal of Pediatric Endocrinology and Metabolism (2012)
Background: Celiac disease (CD) is an autoimmune enteropathy characterized by villus atrophy and malabsorption of...
Pseudohypoparathyroidism in Children, Endocrinology/Diabetes (2011)
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...
A potential role for adjunctive vitamin D therapy in the management of weight gain and metabolic side effects of second-generation antipsychotics (with Bruce Meltzer, Louise Maranda, Carol A. Ciccarelli, Daniel Reynolds, Laura A. Curtis, Jean A. King, Jean A. Frazier, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2011)
Second-generation antipsychotic (SGA) medications introduced about 20 years ago are increasingly used to treat psychiatric...
Blotting, Southern
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Aging
Lack of telomere shortening with age in mouse resting zone chondrocytes (with Ola Nilsson, Robert D. Mitchum Jr., Marilena Coco, Kevin M. Barnes, and Jeffrey Baron), Hormone research (2005)
BACKGROUND AND AIM: Telomeres are hexameric repeat sequences that flank eukaryotic chromosomes. The telomere hypothesis...
Iris
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Collagen Type I
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation (with Margarita Raygada, Ekaterini T. Tsilou, Owen M. Rennert, and Constantine A. Stratakis), Ophthalmic genetics (2005)
A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly...
Hypoglycemic Agents
Design of a family-based lifestyle intervention for youth with type 2 diabetes: the TODAY study (with The TODAY Study Group), International journal of obesity (2005) (2010)
Type 2 diabetes is associated with obesity and is increasing at an alarming rate in...
Diabetes Mellitus
Does Hepatic Dysfunction Worsen Glucose Homeostasis by Impairing Vitamin D Metabolism?, Vitamins & Trace Elements (2012)
The Management of diabetes mellitus (DM) remains an enigma even though the symptoms of the...
Hepatic dysfunction is associated with vitamin D deficiency and poor glycemic control in diabetes mellitus (with Zheni G. Stavre, Louise Maranda, Karen Cullen, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2012)
Background/Aims: The effect of the rising prevalence of nonalcoholic fatty liver disease on the 25-hydroxylation...
Fatty Liver
Hepatic dysfunction is associated with vitamin D deficiency and poor glycemic control in diabetes mellitus (with Zheni G. Stavre, Louise Maranda, Karen Cullen, and Mary M. Lee), Journal of Pediatric Endocrinology and Metabolism (2012)
Background/Aims: The effect of the rising prevalence of nonalcoholic fatty liver disease on the 25-hydroxylation...
Liver Diseases
Does Hepatic Dysfunction Worsen Glucose Homeostasis by Impairing Vitamin D Metabolism?, Vitamins & Trace Elements (2012)
The Management of diabetes mellitus (DM) remains an enigma even though the symptoms of the...
Blood Glucose
Does Hepatic Dysfunction Worsen Glucose Homeostasis by Impairing Vitamin D Metabolism?, Vitamins & Trace Elements (2012)
The Management of diabetes mellitus (DM) remains an enigma even though the symptoms of the...
Adams Oliver syndrome
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome (with Seema Adhami and Alan D. Rogol), Journal of Pediatric Endocrinology and Metabolism (2012)
Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge...
Diabetic Ketoacidosis
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome (with Seema Adhami and Alan D. Rogol), Journal of Pediatric Endocrinology and Metabolism (2012)
Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge...
Stroke
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome (with Seema Adhami and Alan D. Rogol), Journal of Pediatric Endocrinology and Metabolism (2012)
Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge...
Hyperglycemic Hyperosmolar Nonketotic Coma
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome (with Seema Adhami and Alan D. Rogol), Journal of Pediatric Endocrinology and Metabolism (2012)
Diabetes mellitus complicated by mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome presents a special challenge...
Celiac Disease
Is vitamin D deficiency a feature of pediatric celiac disease? (with Jeffrey Villanueva and Louise Maranda), Journal of Pediatric Endocrinology and Metabolism (2012)
Background: Celiac disease (CD) is an autoimmune enteropathy characterized by villus atrophy and malabsorption of...
Asthma
Serum 25-hydroxyvitamin D levels do not correlate with asthma severity in a case-controlled study of children and adolescents (with Jennifer Menon and Louise Maranda), Journal of Pediatric Endocrinology and Metabolism (2012)
Background: There is no consensus on the association between vitamin D and asthma.
Objective: To...