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Items: 1 to 20 of 144

1.

CHARGE Syndrome.

Lalani SR, Hefner MA, Belmont JW, Davenport SLH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Oct 2 [updated 2012 Feb 2].

2.

CHARGE syndrome.

Blake KD, Prasad C.

Orphanet J Rare Dis. 2006 Sep 7;1:34. Review.

4.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.

Am J Hum Genet. 2006 Feb;78(2):303-14. Epub 2005 Dec 29.

5.

22q11.2 Deletion Syndrome.

McDonald-McGinn DM, Emanuel BS, Zackai EH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Sep 23 [updated 2013 Feb 28].

6.

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S.

Clin Genet. 2013 Feb;83(2):125-34. doi: 10.1111/j.1399-0004.2012.01884.x. Epub 2012 Apr 30.

PMID:
22462537
7.

X-Linked Opitz G/BBB Syndrome.

Meroni G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Dec 17 [updated 2011 Jul 28].

8.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Hale CL, Niederriter AN, Green GE, Martin DM.

Am J Med Genet A. 2016 Feb;170A(2):344-54. doi: 10.1002/ajmg.a.37435. Epub 2015 Nov 21.

9.

Mandibulofacial Dysostosis with Microcephaly.

Lines M, Hartley T, Boycott KM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Jul 3.

10.

Muenke Syndrome.

Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, Muenke M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 May 10 [updated 2016 Nov 10].

11.

Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.

Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N.

Clin Pediatr Endocrinol. 2014 Apr;23(2):45-51. doi: 10.1297/cpe.23.45. Epub 2014 Apr 22.

12.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27.

PMID:
29178447
13.

[The CHARGE syndrome].

Klingenberg C, Andersen WH.

Tidsskr Nor Laegeforen. 2008 Jun 12;128(12):1401-5. Review. Norwegian.

14.

Congenital aplasia of the semicircular canals.

Satar B, Mukherji SK, Telian SA.

Otol Neurotol. 2003 May;24(3):437-46.

PMID:
12806296
15.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.

J Med Genet. 2006 Apr;43(4):306-14. Epub 2005 Sep 9.

16.

Chondrodysplasia Punctata 2, X-Linked.

Dempsey MA, Tan C, Herman GE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 31.

17.

Costello Syndrome.

Gripp KW, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Aug 29 [updated 2012 Jan 12].

18.

Autosomal Dominant Robinow Syndrome.

Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2015 Jan 8 [updated 2015 Jul 30].

19.

Smith-Lemli-Opitz Syndrome.

Nowaczyk MJM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Nov 13 [updated 2013 Jun 20].

20.

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.

Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.

Otol Neurotol. 2014 Sep;35(8):1466-70. doi: 10.1097/MAO.0000000000000260.

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