9 selected items - PubMed

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.

Tan HL, Glen E, Töpf A, Hall D, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD.

Hum Mutat. 2012 Apr;33(4):720-7. doi: 10.1002/humu.22030. Epub 2012 Feb 14.

PMID:: 22275001; [PubMed - in process]

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Depienne C, LeGuern E.

Hum Mutat. 2012 Apr;33(4):627-34. doi: 10.1002/humu.22029. Epub 2012 Feb 14.

PMID:: 22267240; [PubMed - in process]

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Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Körner C.

Hum Mutat. 2012 Mar;33(3):485-7. doi: 10.1002/humu.22019. Epub 2012 Jan 31.

PMID:: 22213132; [PubMed - in process]

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Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

Maljevic S, Naros G, Yalçin Ö, Blazevic D, Loeffler H, Cağlayan H, Steinlein OK, Lerche H.

Hum Mutat. 2011 Oct;32(10):E2283-93. doi: 10.1002/humu.21554.

PMID:: 21913284; [PubMed - indexed for MEDLINE]

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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.

PMID:: 21901789; [PubMed - indexed for MEDLINE]

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A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

Yao K, Wang W, Zhu Y, Jin C, Shentu X, Jiang J, Zhang Y, Ni S.

Hum Mutat. 2011 Dec;32(12):1367-70. doi: 10.1002/humu.21552. Epub 2011 Sep 9.

PMID:: 21681855; [PubMed - indexed for MEDLINE]

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Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K.

Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Erratum in: Hum Mutat. 2012 Feb;33(2):456. Lühr, Matthias [corrected to Löhr, Matthias].