Genetics, Birth Defects

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

Citations 151-160 of 219 total displayed.

Past content

ELECTRONIC ARTICLE
An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis

Joshua L. Bonkowsky, Justine Johnson, John C. Carey, A. Gordon Smith, and Kathryn J. Swoboda
Pediatrics 2003; 112: e237-e241. [Abstract] [Full text] [PDF]  

ARTICLE
A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Lorenzo D. Botto, Kristin May, Paul M. Fernhoff, Adolfo Correa, Karlene Coleman, Sonja A. Rasmussen, Robert K. Merritt, Leslie A. O’Leary, Lee-Yang Wong, E. Marsha Elixson, William T. Mahle, and Robert M. Campbell
Pediatrics 2003; 112: 101-107. [Abstract] [Full text] [PDF]  

ARTICLE
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

Andreas Schulze, Martin Lindner, Dirk Kohlmüller, Katharina Olgemöller, Ertan Mayatepek, and Georg F. Hoffmann
Pediatrics 2003; 111: 1399-1406. [Abstract] [Full text] [PDF]  

ARTICLE
Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18

Sonja A. Rasmussen, Lee-Yang C. Wong, Quanhe Yang, Kristin M. May, and J. M. Friedman
Pediatrics 2003; 111: 777-784. [Abstract] [Full text] [PDF]  

ELECTRONIC ARTICLE
A Mutation in Mitochondrial DNA-Encoded Cytochrome c Oxidase II Gene in a Child With Alpers-Huttenlocher-Like Disease

Johanna Uusimaa, Saara Finnilä, Leena Vainionpää, Mikko Kärppä, Riitta Herva, Heikki Rantala, Ilmo E. Hassinen, and Kari Majamaa
Pediatrics 2003; 111: e262-e268. [Abstract] [Full text] [PDF]  

BIOETHICS
Predictive Genetic Testing in Children: Who Determines Appropriateness?

Kevin Donovan
AAP Grand Rounds 2003; 9: 21-22. [Extract] [Full text] [PDF]  

ARTICLE
Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum

Viola Prietsch, Ertan Mayatepek, Hermann Krastel, Dorothea Haas, Dorothee Zundel, Hans R. Waterham, Ronald J.A. Wanders, K. Michael Gibson, and Georg F. Hoffmann
Pediatrics 2003; 111: 258-261. [Abstract] [Full text] [PDF]  

ARTICLE
Risk Factors for Unlicensed and Off-Label Drug Use in Children Outside the Hospital

Eric Schirm, Hilde Tobi, and Lolkje T.W. de Jong-van den Berg
Pediatrics 2003; 111: 291-295. [Abstract] [Full text] [PDF]  

ARTICLE
Genome Scan for Childhood and Adolescent Obesity in German Families

Kathrin Saar, Frank Geller, Franz Rüschendorf, André Reis, Susann Friedel, Nadine Schäuble, Peter Nürnberg, Wolfgang Siegfried, Hans-Peter Goldschmidt, Helmut Schäfer, Andreas Ziegler, Helmut Remschmidt, Anke Hinney, and Johannes Hebebrand
Pediatrics 2003; 111: 321-327. [Abstract] [Full text] [PDF]  

RADIOLOGY
Which Misshapen Head Needs a Workup?

Beverly P. Wood
AAP Grand Rounds 2002; 8: 43-44. [Extract] [Full text] [PDF]  

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