Morlot S - Search Results

1

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Ghani-Kakhki M, Robinson PN, Morlot S, Mitter D, Trimborn M, Albrecht B, Varon R, Sperling K, Neitzel H. Ghani-Kakhki M, et al. Among authors: morlot s. Mol Syndromol. 2012 Jun;3(1):6-13. doi: 10.1159/000338975. Epub 2012 Jun 13. Mol Syndromol. 2012. PMID: 22855649 Free PMC article.

2

Molecular and clinical studies in 8 patients with Temple syndrome.

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J. Gillessen-Kaesbach G, et al. Among authors: morlot s. Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29468661

3

Human Ring Chromosomes - New Insights for their Clinical Significance.

Guilherme R, Klein E, Hamid A, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M, Manolakos E, Kosyakova N, Liehr T. Guilherme R, et al. Among authors: morlot s. Balkan J Med Genet. 2013 Jun;16(1):13-20. doi: 10.2478/bjmg-2013-0013. Balkan J Med Genet. 2013. PMID: 24265580 Free PMC article.

4

Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).

Ledig S, Preisler-Adams S, Morlot S, Liehr T, Wieacker P. Ledig S, et al. Among authors: morlot s. Sex Dev. 2015;9(2):86-90. doi: 10.1159/000373906. Epub 2015 Feb 11. Sex Dev. 2015. PMID: 25676666

5

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Niemann JH, Du C, Morlot S, Schmidt G, Auber B, Kaune B, Göhring G, Ripperger T, Schlegelberger B, Hofmann W, Smol T, Ait-Yahya E, Raimbault A, Lambilliotte A, Petit F, Steinemann D. Niemann JH, et al. Among authors: morlot s. Clin Genet. 2020 Oct;98(4):374-378. doi: 10.1111/cge.13807. Epub 2020 Jul 21. Clin Genet. 2020. PMID: 32627184

6

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B. Wessels K, et al. Among authors: morlot s. Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624498

7

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Ott CE, et al. Among authors: morlot s. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. Hum Mutat. 2010. PMID: 20648631

8

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. Among authors: morlot s. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.

9

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.

Heldt F, Wallaschek H, Ripperger T, Morlot S, Illig T, Eggermann T, Schlegelberger B, Scholz C, Steinemann D. Heldt F, et al. Among authors: morlot s. Eur J Med Genet. 2018 Aug;61(8):421-427. doi: 10.1016/j.ejmg.2018.02.010. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501611 Review.

10

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, Rasi S. Bartsch O, et al. Among authors: morlot s. Hum Genet. 2005 Sep;117(5):485-93. doi: 10.1007/s00439-005-1331-y. Epub 2005 Jul 14. Hum Genet. 2005. PMID: 16021471

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