Vogel I - Search Results

1

Novel TRPV4 variant causes a severe form of metatropic dysplasia.

Graversen L, Haagerup A, Andersen BN, Petersen KK, Gjørup V, Gudmundsdottir G, Vogel I, Gregersen PA. Graversen L, et al. Among authors: vogel i. Clin Case Rep. 2018 Jul 20;6(9):1774-1778. doi: 10.1002/ccr3.1598. eCollection 2018 Sep. Clin Case Rep. 2018. PMID: 30214761 Free PMC article.

2

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I. Moosa S, et al. Among authors: vogel i. Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116. Am J Med Genet A. 2017. PMID: 28328135

3

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.

Støve HK, Becher N, Gjørup V, Ramsing M, Vogel I, Vestergaard EM. Støve HK, et al. Among authors: vogel i. Clin Case Rep. 2017 Mar 17;5(5):608-612. doi: 10.1002/ccr3.902. eCollection 2017 May. Clin Case Rep. 2017. PMID: 28469860 Free PMC article.

4

Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.

Vogel I, Ott P, Lildballe D, Hamilton-Dutoit S, Vilstrup H, Grønbæk H. Vogel I, et al. Clin Case Rep. 2017 May 23;5(7):1098-1102. doi: 10.1002/ccr3.981. eCollection 2017 Jul. Clin Case Rep. 2017. PMID: 28680603 Free PMC article.

5

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.

Schøler Nørgaard M, Mogra R, Pinner J, Kagan KO, Warming Jørgensen M, Gjørup V, Petersen OB, Sandager P, Vogel I. Schøler Nørgaard M, et al. Among authors: vogel i. Ultrasound Obstet Gynecol. 2020 Feb;55(2):274-275. doi: 10.1002/uog.20281. Ultrasound Obstet Gynecol. 2020. PMID: 30937994 Free article. No abstract available.

6

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

Graversen L, Handrup MM, Irving M, Hove H, Diness BR, Risom L, Svaneby D, Aagaard MM, Vogel I, Gjørup H, Davidsen M, Hellfritzsch MB, Lauridsen E, Gregersen PA. Graversen L, et al. Among authors: vogel i. Eur J Med Genet. 2020 Feb;63(2):103650. doi: 10.1016/j.ejmg.2019.04.007. Epub 2019 Apr 11. Eur J Med Genet. 2020. PMID: 30980954

7

Clinical and genetic evaluation of Danish patients with pycnodysostosis.

Doherty MA, Langdahl BL, Vogel I, Haagerup A. Doherty MA, et al. Among authors: vogel i. Eur J Med Genet. 2021 Feb;64(2):104135. doi: 10.1016/j.ejmg.2021.104135. Epub 2021 Jan 9. Eur J Med Genet. 2021. PMID: 33429075 Free article.

8

A novel nonsense variant in MED12 associated with malformations in a female fetus.

Faergeman SL, Becher N, Andreasen L, Christiansen M, Frost L, Vogel I. Faergeman SL, et al. Among authors: vogel i. Clin Case Rep. 2021 Dec 22;9(12):e05124. doi: 10.1002/ccr3.5124. eCollection 2021 Dec. Clin Case Rep. 2021. PMID: 34987808 Free PMC article.

9

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C. Cortés CR, et al. Among authors: vogel i. Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083. Sci Rep. 2016. PMID: 27094867 Free PMC article.

10

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations.

Hatt L, Singh R, Christensen R, Ravn K, Christensen IB, Jeppesen LD, Nicolaisen BH, Kølvraa M, Schelde P, Andreassen L, Farlie R, Uldbjerg N, Vogel I. Hatt L, et al. Among authors: vogel i. Clin Case Rep. 2020 Aug 9;8(12):2561-2567. doi: 10.1002/ccr3.3211. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363780 Free PMC article.

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