M P Wajnrajch
Affiliation: Cornell University
- Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia RegistryM P Wajnrajch
Department of Pediatrics and Children s Clinical Research Center, New York Presbyterian Hospital Cornell University Medical Center, New York, New York 10021, USA
Pediatrics 107:744-54. 2001....
- Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptorMichael P Wajnrajch
Division of Pediatric Endocrinology, Department of Pediatrics, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA
Am J Med Genet A 120:77-83. 2003..5 centimorgan (cM) region around GHRHR on chromosome 7p15. We conclude that the affected individuals share a common ancestor, and we use the association with linked markers to estimate the age of this unique mutation...
- Genetic disorders of human growthMichael P Wajnrajch
Department of Pediatrics, Weill Medical College of Cornell University, New York, NY 10021, USA
J Pediatr Endocrinol Metab 15:701-14. 2002..What is becoming increasingly clear is the role of genetics in determining stature. This review discusses the most clinically relevant factors, with an emphasis on ontogeny, genetic inheritance, and clinical presentation...
- Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouseM P Wajnrajch
Children s Clinical Research Center, New York Hospital Cornell Medical Center, New York 10021, USA
Nat Genet 12:88-90. 1996
- Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screenI Marshall
Division of Pediatric Endocrinology, New York Presbyterian Hospital Weill Medical College of Cornell University, New York, New York 10021, USA
J Clin Endocrinol Metab 88:4144-8. 2003..Therefore, it is essential that physicians be familiar with the various etiologies, perform the appropriate antenatal evaluation to determine the specific cause, and closely monitor both mother and child ante- and postnatally...
- Heritable disorders of pituitary developmentJ S Parks
Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA
J Clin Endocrinol Metab 84:4362-70. 1999..Homozygosity for inactivating mutations of HESX1 produces a complex phenotype that resembles septo-optic dysplasia. Much more needs to be learned about the role of HESX1 mutations in other forms of hypopituitarism...
- Growth Hormone Releasing Hormone (GHRH) and the GHRH ReceptorKaren Lin-Su
Division of Pediatric Endocrinology, Weill Medical College of Cornell University, New York, USA
Rev Endocr Metab Disord 3:313-23. 2002
- Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 geneOra Hess
Faculty of Sciences, Bar Ilan University, Ramat Gan 52900, Israel
J Clin Endocrinol Metab 92:4387-93. 2007..G to A transition at position 6,664 (G6664A) in human GH-1 results in the substitution of arginine by histidine at position 183 (R183H) of the GH molecule and causes familial isolated GH deficiency type II (IGHD II)...
- Effect of different growth hormone (GH) mutants on the regulation of GH-receptor gene transcription in a human hepatoma cell lineJohnny Deladoey
Department of Paediatrics, Division of Paediatric Endocrinology, Inselspital, CH 3010 Bern, Switzerland
Eur J Endocrinol 146:573-81. 2002..The aim of this study was to assess the bioactivity of this R183H mutant GH in comparison with both other GH variants and the 22-kDa GH in terms of GH-receptor gene regulation...
- Physiological and pathological growth hormone secretionMichael P Wajnrajch
Pfizer Inc, New York, NY 10017, USA
J Pediatr Endocrinol Metab 18:325-38. 2005..Inferences made from comprehensive evaluations of the GH axis in Fanconi's anemia provide unique insight into general GH pathophysiology...
- Limited efficacy of growth hormone (GH) during transition of GH-deficient patients from adolescence to adulthood: a phase III multicenter, double-blind, randomized two-year trialNelly Mauras
Division of Endocrinology, Nemours Children s Clinic, 807 Children s Way, Jacksonville, Florida 32207, USA
J Clin Endocrinol Metab 90:3946-55. 2005..Treatment of GH-deficient adolescents in transition to adulthood remains challenging...
- Treatment of acromegaly with pegvisomant during pregnancy: maternal and fetal effectsSusan Riddle Brian
Department of Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
J Clin Endocrinol Metab 92:3374-7. 2007..Our objective was to describe the first case of the successful use of pegvisomant during pregnancy in a woman with acromegaly...
- Gender of pediatric recombinant human growth hormone recipients in the United States and globallyAdda Grimberg
Division of Pediatric Endocrinology, The Children s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, PA 19104 4318, USA
J Clin Endocrinol Metab 93:2050-6. 2008..With rhGH entering its third decade, we sought to examine U.S. gender-based treatment patterns and how these patterns compare with that of other countries...
- Predictors of first-year growth response to a fixed-dose growth hormone treatment in children born small for gestational age: results of an open-label, multicenter trial in the United StatesRobert Rapaport
Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
J Pediatr Endocrinol Metab 21:411-22. 2008..The GH dose was the major predictor of first year growth response...