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Items: 43

1.

Excessive rDNA Transcription Drives the Disruption in Nuclear Homeostasis during Entry into Senescence in Budding Yeast.

Morlot S, Song J, Léger-Silvestre I, Matifas A, Gadal O, Charvin G.

Cell Rep. 2019 Jul 9;28(2):408-422.e4. doi: 10.1016/j.celrep.2019.06.032.

2.

Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.

Golas MM, Auber B, Ripperger T, Pabst B, Schmidt G, Morlot M, Diebold U, Steinemann D, Schlegelberger B, Morlot S.

Am J Med Genet A. 2019 Jul;179(7):1383-1389. doi: 10.1002/ajmg.a.61166. Epub 2019 May 6.

PMID:
31062505
3.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB.

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.

4.

A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.

Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D.

Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6.

PMID:
30191368
5.

[Possibilities and limitations of molecular pathology in dermatohistology].

Schacht V, Lehmann U, Reineke-Plaass T, Länger F, Auber B, Morlot S, Kreipe HH.

Hautarzt. 2018 Jul;69(7):563-569. doi: 10.1007/s00105-018-4206-6. Review. German.

PMID:
29876610
6.

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.

Eur J Med Genet. 2018 Aug;61(8):421-427. doi: 10.1016/j.ejmg.2018.02.010. Epub 2018 Mar 1. Review.

PMID:
29501611
7.

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.

Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25.

PMID:
29468661
8.

Nonlinear feedback drives homeostatic plasticity in H2O2 stress response.

Goulev Y, Morlot S, Matifas A, Huang B, Molin M, Toledano MB, Charvin G.

Elife. 2017 Apr 18;6. pii: e23971. doi: 10.7554/eLife.23971.

9.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.

Orphanet J Rare Dis. 2015 Feb 10;10:15. doi: 10.1186/s13023-015-0238-5.

10.

A balance between membrane elasticity and polymerization energy sets the shape of spherical clathrin coats.

Saleem M, Morlot S, Hohendahl A, Manzi J, Lenz M, Roux A.

Nat Commun. 2015 Feb 19;6:6249. doi: 10.1038/ncomms7249.

11.

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.

Sex Dev. 2015;9(2):86-90. doi: 10.1159/000373906. Epub 2015 Feb 11.

PMID:
25676666
12.

A memory system of negative polarity cues prevents replicative aging.

Meitinger F, Khmelinskii A, Morlot S, Kurtulmus B, Palani S, Andres-Pons A, Hub B, Knop M, Charvin G, Pereira G.

Cell. 2014 Nov 20;159(5):1056-1069. doi: 10.1016/j.cell.2014.10.014. Epub 2014 Nov 13.

13.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.

Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.

14.

Consider family history.

Morlot S, Auber B, Hille-Betz U, Pertschy S, Steinemann D, Schlegelberger B.

Dtsch Arztebl Int. 2014 May 30;111(22):403-4. doi: 10.3238/arztebl.2014.0403b. No abstract available.

15.

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.

Balkan J Med Genet. 2013 Jun;16(1):13-20. doi: 10.2478/bjmg-2013-0013.

16.

Homozygous R127H mutation in the GJB2 gene in a boy with initial unilateral severe hearing loss.

Schwemmle C, Morlot S, Ptok M.

Klin Padiatr. 2013 Dec;225(7):405-6. doi: 10.1055/s-0033-1354375. Epub 2013 Oct 24. No abstract available.

PMID:
24158896
17.

Mechanics of dynamin-mediated membrane fission.

Morlot S, Roux A.

Annu Rev Biophys. 2013;42:629-49. doi: 10.1146/annurev-biophys-050511-102247. Review.

18.

Membrane shape at the edge of the dynamin helix sets location and duration of the fission reaction.

Morlot S, Galli V, Klein M, Chiaruttini N, Manzi J, Humbert F, Dinis L, Lenz M, Cappello G, Roux A.

Cell. 2012 Oct 26;151(3):619-29. doi: 10.1016/j.cell.2012.09.017.

19.

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.

Mol Syndromol. 2012 Jun;3(1):6-13. Epub 2012 Jun 13.

20.

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK.

Breast Cancer Res Treat. 2012 Aug;134(3):1229-39. doi: 10.1007/s10549-012-2050-4. Epub 2012 Apr 26.

PMID:
22535016
21.

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.

J Histochem Cytochem. 2012 Jul;60(7):530-6. doi: 10.1369/0022155412441708. Epub 2012 Apr 17. Erratum in: J Histochem Cytochem. 2012 Aug;60(8):630. Mulhatino, Milene V [corrected to Mulatinho, Milene V].

22.

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.

Cytogenet Genome Res. 2012;136(3):163-6. doi: 10.1159/000336648. Epub 2012 Mar 1.

PMID:
22377933
23.

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.

Hum Mutat. 2011 Jun;32(6):E2134-47. doi: 10.1002/humu.21476.

PMID:
21618341
24.

Deformation of dynamin helices damped by membrane friction.

Morlot S, Lenz M, Prost J, Joanny JF, Roux A.

Biophys J. 2010 Dec 1;99(11):3580-8. doi: 10.1016/j.bpj.2010.10.015.

25.

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.

Hum Reprod. 2010 Oct;25(10):2637-46. doi: 10.1093/humrep/deq167. Epub 2010 Aug 4.

PMID:
20685758
26.

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.

Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298.

PMID:
20648631
27.

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.

Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30.

PMID:
20624498
28.

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.

Mol Cytogenet. 2010 Feb 18;3:3. doi: 10.1186/1755-8166-3-3.

29.

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.

Hum Mol Genet. 2010 Mar 1;19(5):790-802. doi: 10.1093/hmg/ddp548. Epub 2009 Dec 8.

PMID:
19995790
30.

Mechanical requirements for membrane fission: common facts from various examples.

Lenz M, Morlot S, Roux A.

FEBS Lett. 2009 Dec 3;583(23):3839-46. doi: 10.1016/j.febslet.2009.11.012. Epub 2009 Nov 11. Review.

31.

[Language development impairment and trisomy 8 mosaicism].

Ptok M, Morlot S.

HNO. 2009 Jul;57(7):685-9. doi: 10.1007/s00106-008-1811-1. German.

PMID:
19547944
32.

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.

Cytogenet Genome Res. 2009;124(1):102-5. doi: 10.1159/000200094. Epub 2009 Apr 15.

PMID:
19372675
33.

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.

Am J Hum Genet. 2007 Aug;81(2):388-96. Epub 2007 Jun 8.

34.

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.

J Med Genet. 2007 Feb;44(2):131-5. Epub 2006 Oct 20.

35.

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB, Boon LM, Vikkula M.

Clin Genet. 2006 Oct;70(4):330-5.

PMID:
16965327
36.

[Speech impairment and the Smith-Magenis syndrome].

Bergmann C, Morlot S, Ptok M.

HNO. 2007 Aug;55(8):644-6. German.

PMID:
16767429
37.
38.

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.

Hum Genet. 2005 Sep;117(5):485-93. Epub 2005 Jul 14.

PMID:
16021471
39.

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.

Am J Obstet Gynecol. 2004 Apr;190(4):1059-62.

PMID:
15118641
40.

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy.

Bremer M, Schindler D, Gross M, Dörk T, Morlot S, Karstens JH.

Strahlenther Onkol. 2003 Nov;179(11):748-53.

PMID:
14605744
41.

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J.

J Invest Dermatol. 2003 Mar;120(3):351-5.

42.

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.

Hum Mutat. 2002 May;19(5):526-35.

PMID:
11968085
43.

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.

Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW, Carrington M, Winkler C, Huttley GA, Allikmets R, Schriml L, Gerrard B, Malasky M, Ramos MD, Morlot S, Tzetis M, Oddoux C, di Giovine FS, Nasioulas G, Chandler D, Aseev M, Hanson M, Kalaydjieva L, Glavac D, Gasparini P, Kanavakis E, Claustres M, Kambouris M, Ostrer H, Duff G, Baranov V, Sibul H, Metspalu A, Goldman D, Martin N, Duffy D, Schmidtke J, Estivill X, O'Brien SJ, Dean M.

Am J Hum Genet. 1998 Jun;62(6):1507-15.

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