Morlot S - Search Results

1

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

2

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. Lehmann K, et al. Among authors: morlot s. Am J Hum Genet. 2007 Aug;81(2):388-96. doi: 10.1086/519697. Epub 2007 Jun 8. Am J Hum Genet. 2007. PMID: 17668388 Free PMC article.

3

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.

Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A. Kutsche K, et al. Among authors: morlot s. Hum Mutat. 2002 May;19(5):526-35. doi: 10.1002/humu.10072. Hum Mutat. 2002. PMID: 11968085

4

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

5

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.

6

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

Vogt J, Kohlhase J, Morlot S, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Vogt J, et al. Among authors: morlot s. Hum Mutat. 2011 Jun;32(6):E2134-47. doi: 10.1002/humu.21476. Hum Mutat. 2011. PMID: 21618341

7

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

8

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.

9

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

10

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

Gremer L, De Luca A, Merbitz-Zahradnik T, Dallapiccola B, Morlot S, Tartaglia M, Kutsche K, Ahmadian MR, Rosenberger G. Gremer L, et al. Among authors: morlot s. Hum Mol Genet. 2010 Mar 1;19(5):790-802. doi: 10.1093/hmg/ddp548. Epub 2009 Dec 8. Hum Mol Genet. 2010. PMID: 19995790

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