Genetics, Birth Defects

Contributing journals to this collection:
AAP Grand Rounds, NeoReviews, Pediatrics, and Pediatrics in Review

Citations 51-60 of 219 total displayed.

Past content

Pediatrics
EXPERIENCE & REASON
Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
Agatino Battaglia, H. Eugene Hoyme, Bruno Dallapiccola, Elaine Zackai, Louanne Hudgins, Donna McDonald-McGinn, Nadia Bahi-Buisson, Corrado Romano, Charles A. Williams, Lisa L. Brailey, Sameer M. Zuberi, and John C. Carey
Pediatrics 2008; 121: 404-410. [Abstract] [Full text] [PDF]  

NeoReviews
Articles
Common Dysmorphic Syndromes in the NICU
Nader Bishara and Carol L. Clericuzio
NeoReviews 2008; 9: e29-e38. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Risk of Vascular Anomalies With Down Syndrome
Arin K. Greene, Sendia Kim, Gary F. Rogers, Steven J. Fishman, Bjorn R. Olsen, and John B. Mulliken
Pediatrics 2008; 121: e135-e140. [Abstract] [Full text] [PDF]  

Pediatrics
EXPERIENCE & REASON
A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay
Anastasios Papadimitriou, Alexandra Mihaela Dumitrescu, Antigone Papavasiliou, Andreas Fretzayas, Polyxeni Nicolaidou, and Samuel Refetoff
Pediatrics 2008; 121: e199-e202. [Abstract] [Full text] [PDF]  

Pediatrics
LETTERS TO THE EDITOR
Pseudo-asthma Revisited: In Reply
Miles M. Weinberger
Pediatrics 2008; 121: 221-a--a222. [Extract] [Full text] [PDF]  

Pediatrics
LETTERS TO THE EDITOR
Pseudo-asthma Revisited
Ran D. Anbar
Pediatrics 2008; 121: 221. [Extract] [Full text] [PDF]  

Pediatrics
EXPERIENCE & REASON
Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine
Lynne A. Wolfe, David N. Finegold, Jerry Vockley, Nicole Walters, Celine Chambaz, Terttu Suormala, Hans Georg Koch, Dietrich Matern, Bruce A. Barshop, Lorna J. Cropcho, Matthias R. Baumgartner, and K. Michael Gibson
Pediatrics 2007; 120: e1335-e1340. [Abstract] [Full text] [PDF]  

Pediatrics
EXPERIENCE & REASON
Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine
Lynne A. Wolfe, David N. Finegold, Jerry Vockley, Nicole Walters, Celine Chambaz, Terttu Suormala, Hans Georg Koch, Dietrich Matern, Bruce A. Barshop, Lorna J. Cropcho, Matthias R. Baumgartner, and K. Michael Gibson
Pediatrics peds.2007-0674. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Dopamine Receptor D2 Gene Taq1A (C32806T) Polymorphism Modifies the Relationship Between Birth Weight and Educational Attainment in Adulthood: 21-Year Follow-up of the Cardiovascular Risk in Young Finns Study
Liisa Keltikangas-Järvinen, Marko Elovainio, Mika Kivimäki, Olli T. Raitakari, Jorma S.A. Viikari, and Terho Lehtimäki
Pediatrics 2007; 120: 756-761. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Disease Progression in Hutchinson-Gilford Progeria Syndrome: Impact on Growth and Development
Leslie B. Gordon, Kathleen M. McCarten, Anita Giobbie-Hurder, Jason T. Machan, Susan E. Campbell, Scott D. Berns, and Mark W. Kieran
Pediatrics 2007; 120: 824-833. [Abstract] [Full text] [PDF]  

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