Morlot S - Search Results

1

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P. Ledig S, et al. Among authors: morlot s. Hum Reprod. 2010 Oct;25(10):2637-46. doi: 10.1093/humrep/deq167. Epub 2010 Aug 4. Hum Reprod. 2010. PMID: 20685758

2

Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.

Röpke A, Pelz AF, Volleth M, Schlösser HW, Morlot S, Wieacker PF. Röpke A, et al. Among authors: morlot s. Am J Obstet Gynecol. 2004 Apr;190(4):1059-62. doi: 10.1016/j.ajog.2003.09.053. Am J Obstet Gynecol. 2004. PMID: 15118641

3

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

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

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

6

A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.

Bucksch M, Ziegler M, Kosayakova N, Mulatinho MV, Llerena JC Jr, Morlot S, Fischer W, Polityko AD, Kulpanovich AI, Petersen MB, Belitz B, Trifonov V, Weise A, Liehr T, Hamid AB. Bucksch M, et al. Among authors: morlot s. J Histochem Cytochem. 2012 Jul;60(7):530-6. doi: 10.1369/0022155412441708. Epub 2012 Apr 17. J Histochem Cytochem. 2012. PMID: 22511603 Free PMC article.

7

Five novel locations of Neocentromeres in human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and heterochromatin of unknown origin.

Klein E, Rocchi M, Ovens-Raeder A, Kosyakova N, Weise A, Ziegler M, Meins M, Morlot S, Fischer W, Volleth M, Polityko A, Ogilvie CM, Kraus C, Liehr T. Klein E, et al. Among authors: morlot s. Cytogenet Genome Res. 2012;136(3):163-6. doi: 10.1159/000336648. Epub 2012 Mar 1. Cytogenet Genome Res. 2012. PMID: 22377933

8

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.

9

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.

Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A. Liehr T, et al. Among authors: morlot s. Cytogenet Genome Res. 2009;124(1):102-5. doi: 10.1159/000200094. Epub 2009 Apr 15. Cytogenet Genome Res. 2009. PMID: 19372675

10

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

Barber JC, Bunyan D, Curtis M, Robinson D, Morlot S, Dermitzel A, Liehr T, Alves C, Trindade J, Paramos AI, Cooper C, Ocraft K, Taylor EJ, Maloney VK. Barber JC, et al. Among authors: morlot s. Mol Cytogenet. 2010 Feb 18;3:3. doi: 10.1186/1755-8166-3-3. Mol Cytogenet. 2010. PMID: 20167067 Free PMC article.

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