Genetics & Dysmorphology

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

Citations 81-90 of 240 total displayed.

Past content

Pediatrics
ARTICLES
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Michael J. Friez, Julie R. Jones, Katie Clarkson, Herbert Lubs, Dianne Abuelo, Jo-Ann Blaymore Bier, Shashidhar Pai, Richard Simensen, Charles Williams, Philip F. Giampietro, Charles E. Schwartz, and Roger E. Stevenson
Pediatrics 10.1542/peds.2006-0395. [Abstract] [Full text] [PDF]  

Pediatrics
EXPERIENCE & REASON
Monozygotic Twins With Turner Syndrome Develop Slipped Capital Femoral Epiphysis on Growth Hormone Therapy
Zeina M. Nabhan and Erica A. Eugster
Pediatrics 10.1542/peds.2006-0955. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)
Joseph T.C. Shieh, Petra Swidler, John A. Martignetti, Maria Celeste M. Ramirez, Imelda Balboni, Julie Kaplan, Jeanette Kennedy, Omar Abdul-Rahman, Gregory M. Enns, Christy Sandborg, Anne Slavotinek, and H. Eugene Hoyme
Pediatrics 2006; 118: e1485-e1492. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)
Joseph T.C. Shieh, Petra Swidler, John A. Martignetti, Maria Celeste M. Ramirez, Imelda Balboni, Julie Kaplan, Jeanette Kennedy, Omar Abdul-Rahman, Gregory M. Enns, Christy Sandborg, Anne Slavotinek, and H. Eugene Hoyme
Pediatrics 10.1542/peds.2006-0824. [Abstract] [Full text] [PDF]  

Pediatr. Rev.
Articles
Precocious Puberty
Andrew Muir
Pediatr. Rev. 2006; 27: 373-381. [Extract] [Full text] [PDF]  

Pediatr. Rev.
Articles
Focus on Diagnosis: The Alkaline Phosphatase Level: Nuances of a Familiar Test
Sarah D. Corathers
Pediatr. Rev. 2006; 27: 382-384. [Extract] [Full text] [PDF]  

Pediatrics
EXPERIENCE & REASON
Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome
Douglas C. Bittel, Nataliya Kibiryeva, and Merlin G. Butler
Pediatrics 2006; 118: e1276-e1283. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Comparison of the 4-Digit Diagnostic Code and the Hoyme Diagnostic Guidelines for Fetal Alcohol Spectrum Disorders
Susan J. Astley
Pediatrics 2006; 118: 1532-1545. [Abstract] [Full text] [PDF]  

Pediatrics
ARTICLES
Comorbidity, Hospitalization, and Medication Use and Their Influence on Mental and Motor Development of Young Infants With Down Syndrome
A.S. Paul van Trotsenburg, Hugo S.A. Heymans, Jan G.P. Tijssen, Jan J.M. de Vijlder, and Thomas Vulsma
Pediatrics 2006; 118: 1633-1639. [Abstract] [Full text] [PDF]  

Pediatrics
EXPERIENCE & REASON
Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome
Douglas C. Bittel, Nataliya Kibiryeva, and Merlin G. Butler
Pediatrics 10.1542/peds.2006-0424. [Abstract] [Full text] [PDF]  

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