Wohlfart S - Search Results

1

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.

Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A. Abou Jamra R, et al. Among authors: wohlfart s. Eur J Hum Genet. 2011 Nov;19(11):1161-6. doi: 10.1038/ejhg.2011.98. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629298 Free PMC article.

2

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

Wohlfart S, Hammersen J, Schneider H. Wohlfart S, et al. J Hum Genet. 2016 Oct;61(10):891-897. doi: 10.1038/jhg.2016.75. Epub 2016 Jun 16. J Hum Genet. 2016. PMID: 27305980

3

Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.

Wohlfart S, Schneider H. Wohlfart S, et al. Clin Genet. 2019 Mar;95(3):427-432. doi: 10.1111/cge.13503. Clin Genet. 2019. PMID: 30623979

4

Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

Burger K, Schneider AT, Wohlfart S, Kiesewetter F, Huttner K, Johnson R, Schneider H. Burger K, et al. Among authors: wohlfart s. Am J Med Genet A. 2014 Oct;164A(10):2424-32. doi: 10.1002/ajmg.a.36541. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715423

5

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.

Wohlfart S, Söder S, Smahi A, Schneider H. Wohlfart S, et al. Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26440664

6

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Hammersen J, Wohlfart S, Goecke TW, Köninger A, Stepan H, Gallinat R, Morris S, Bücher K, Clarke A, Wünsche S, Beckmann MW, Schneider H, Faschingbauer F. Hammersen J, et al. Among authors: wohlfart s. Prenat Diagn. 2019 Aug;39(9):796-805. doi: 10.1002/pd.5384. Epub 2018 Nov 20. Prenat Diagn. 2019. PMID: 30394555

7

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.

Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, Johnson R, Porte F, Schneider H. Wohlfart S, et al. Orphanet J Rare Dis. 2020 Jan 10;15(1):7. doi: 10.1186/s13023-019-1288-x. Orphanet J Rare Dis. 2020. PMID: 31924237 Free PMC article.

8

Automatic recognition of the XLHED phenotype from facial images.

Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK. Hadj-Rabia S, et al. Among authors: wohlfart s. Am J Med Genet A. 2017 Sep;173(9):2408-2414. doi: 10.1002/ajmg.a.38343. Epub 2017 Jul 10. Am J Med Genet A. 2017. PMID: 28691769

9

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P. Schneider H, et al. Among authors: wohlfart s. N Engl J Med. 2018 Apr 26;378(17):1604-1610. doi: 10.1056/NEJMoa1714322. N Engl J Med. 2018. PMID: 29694819 Free article.

10

Sweating ability of patients with p63-associated syndromes.

Ferstl P, Wohlfart S, Schneider H. Ferstl P, et al. Among authors: wohlfart s. Eur J Pediatr. 2018 Nov;177(11):1727-1731. doi: 10.1007/s00431-018-3227-6. Epub 2018 Aug 7. Eur J Pediatr. 2018. PMID: 30088137

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