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Neonatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 11 articles: HTML format

Single Articles

April 2008
1. PITTIS M , Donnarumma M, Montalvo A, Dominissini S, et al
   Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
   Hum Mutat. 2008;.
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2. TROCHET D , de Pontual L, Estevao MH, Mathieu Y, et al
   Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
   Hum Mutat. 2008;29:770.
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3. GU F , Luo W, Li X, Wang Z, et al
   A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
   Hum Mutat. 2008;29:769.
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   February 2008
4. WANG H , Sammel MD, Tromp G, Gotsch F, et al
   A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans.
   Hum Mutat. 2008;29:332.
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5. MONNIER N , Marty I, Faure J, Castiglioni C, et al
   Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
   Hum Mutat. 2008;.
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   January 2008
6. PARODI S , Bachetti T, Lantieri F, Di Duca M, et al
   Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
   Hum Mutat. 2008;29:206.
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   November 2007
7. GERBER S , Hanein S, Perrault I, Delphin N, et al
   Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
   Hum Mutat. 2007;28:1245.
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   August 2007
8. SCHIMPF S , Fuhrmann N, Schaich S, Wissinger B, et al
   Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
   Hum Mutat. 2007;.
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   July 2007
9. SZABO V , Kreienkamp HJ, Rosenberg T, Gal A, et al
   p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
   Hum Mutat. 2007;28:741-2.
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   June 2007
10. CIDECIYAN AV , Aleman TS, Jacobson SG, Khanna H, et al
    Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis.
    Hum Mutat. 2007;.
    PubMed     Related articles    Abstract available
    
    
    May 2007
11. SCHORDERET DF , Tiab L, Gaillard MC, Lorenz B, et al
    Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
    Hum Mutat. 2007;28:525.
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