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Neonatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 20 articles: HTML format Text format

Single Articles

February 2010
1. HOSTE C , Rigutto S, Van Vliet G, Miot F, et al
   Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H(2)O(2)-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
   Hum Mutat. 2010.
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   January 2010
2. PERRAULT I , Hanein S, Gerard X, Delphin N, et al
   Spectrum of SPATA7 mutations in leber congenital amaurosis and delineation of the associated phenotype.
   Hum Mutat. 2010.
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   December 2009
3. LAWLOR MW , Dechene ET, Roumm E, Geggel AS, et al
   Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
   Hum Mutat. 2009.
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   October 2009
4. HAEUPTLE MA , Hennet T
   Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
   Hum Mutat. 2009.
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5. LOTTA LA , Garagiola I, Palla R, Cairo A, et al
   ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
   Hum Mutat. 2009.
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   September 2009
6. OSBAK KK , Colclough K, Saint-Martin C, Beer NL, et al
   Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
   Hum Mutat. 2009.
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   August 2009
7. OTTOLENGHI S
   Defective protein trafficking: From craniofacial disease to congenital dyserythropoietic anemia.
   Hum Mutat. 2009;30:v.
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   July 2009
8. CUTTING GR
   Genetic heterogeneity and cystic fibrosis.
   Hum Mutat. 2009;30:v.
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9. AZAD AK , Rauh R, Vermeulen F, Jaspers M, et al
   Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
   Hum Mutat. 2009;30:1093-103.
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   June 2009
10. BIANCHI P , Fermo E, Vercellati C, Boschetti C, et al
    Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
    Hum Mutat. 2009.
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11. HWU WL , Chien YH, Lee NC, Chiang SC, et al
    Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
    Hum Mutat. 2009.
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    May 2009
12. MAGYAR I , Colman D, Arnold E, Baumgartner D, et al
    Quantitative Sequence Analysis of FBN1 Premature Termination Codons Provides Evidence for Incomplete NMD in Leukocytes.
    Hum Mutat. 2009.
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13. XU J , Hu Z, Xu Z, Gu H, et al
    Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population.
    Hum Mutat. 2009.
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    March 2009
14. MARTONI E , Urciuolo A, Sabatelli P, Fabris M, et al
    Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.
    Hum Mutat. 2009.
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15. ZHANG T , Hua R, Xiao W, Burdon KP, et al
    Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
    Hum Mutat. 2009.
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16. VANTAGGIATO C , Redaelli F, Falcone S, Perrotta C, et al
    A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
    Hum Mutat. 2009.
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    February 2009
17. VEGA AI , Perez-Cerda C, Desviat LR, Matthijs G, et al
    Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
    Hum Mutat. 2009.
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18. ZSCHOCKE J , Kebbewar M, Gan-Schreier H, Fischer C, et al
    Molecular neonatal screening for homocystinuria in the Qatari population.
    Hum Mutat. 2009.
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    January 2009
19. AIELLO C , Terracciano A, Simonati A, Discepoli G, et al
    Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Hum Mutat. 2009.
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    December 2008
20. HERMAN ML , Farasat S, Steinbach PJ, Wei MH, et al
    Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1.
    Hum Mutat. 2008.
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