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Results: 1 to 20 of 102

1.

The importance of genetic susceptibility in Dupuytren's disease.

Becker K, Tinschert S, Lienert A, Bleuler PE, Staub F, Meinel A, Rößler J, Wach W, Hoffmann R, Kühnel F, Damert HG, Nick HE, Spicher R, Lenze W, Langer M, Nürnberg P, Hennies HC.

Clin Genet. 2014 Apr 22. doi: 10.1111/cge.12410. [Epub ahead of print]

PMID:
24749973
[PubMed - as supplied by publisher]
2.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.

Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.

PMID:
24689081
[PubMed]
Free PMC Article
3.

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, El Khassawna T, Stevenson DA, Elefteriou F, Kornak U, Raum K, Fratzl P, Mundlos S, Kolanczyk M.

PLoS One. 2014 Jan 21;9(1):e86115. doi: 10.1371/journal.pone.0086115. eCollection 2014.

PMID:
24465906
[PubMed - in process]
Free PMC Article
4.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.

PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013.

PMID:
24265693
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Hackmann K, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock E, Rump A, Fauth C, Tinschert S, Oexle K.

Am J Med Genet A. 2013 Dec;161A(12):3144-9. doi: 10.1002/ajmg.a.36155. Epub 2013 Aug 16.

PMID:
24039006
[PubMed - indexed for MEDLINE]
6.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

PMID:
23906836
[PubMed - indexed for MEDLINE]
7.

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S.

J Dtsch Dermatol Ges. 2013 May 13. doi: 10.1111/ddg.12116. [Epub ahead of print] No abstract available.

PMID:
23668231
[PubMed - as supplied by publisher]
8.

A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis.

Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes HG, Wardelmann E, Schildhaus HU, Tinschert S.

Am J Surg Pathol. 2013 Jun;37(6):898-905. doi: 10.1097/PAS.0b013e31827bc071.

PMID:
23598963
[PubMed - indexed for MEDLINE]
9.

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

Wieland I, Tinschert S, Zenker M.

Am J Med Genet A. 2013 Apr;161A(4):889-91. doi: 10.1002/ajmg.a.35764. Epub 2013 Feb 22. No abstract available.

PMID:
23436452
[PubMed - indexed for MEDLINE]
10.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, Wollenberg A, Torrelo A, Bagazgoitia L, Diaz-Ley B, Tinschert S, Oschlies I, Singer S, Mickler M, Toll A, Landthaler M, Real FX, Hafner C.

J Invest Dermatol. 2013 Aug;133(8):1998-2003. doi: 10.1038/jid.2013.24. Epub 2013 Jan 21.

PMID:
23337891
[PubMed - indexed for MEDLINE]
Free Article
11.

A misplaced lncRNA causes brachydactyly in humans.

Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S.

J Clin Invest. 2012 Nov 1;122(11):3990-4002. doi: 10.1172/JCI65508. Epub 2012 Oct 24.

PMID:
23093776
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S.

Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20.

PMID:
22821547
[PubMed - indexed for MEDLINE]
13.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Kortüm F, Chyrek M, Fuchs S, Albrecht B, Gillessen-Kaesbach G, Mütze U, Seemanova E, Tinschert S, Wieczorek D, Rosenberger G, Kutsche K.

Mol Syndromol. 2011 Dec;2(1):27-34. Epub 2011 Nov 12.

PMID:
22570643
[PubMed]
Free PMC Article
14.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Review.

PMID:
22561202
[PubMed - indexed for MEDLINE]
15.

Macrocerebellum: significance and pathogenic considerations.

Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E.

Cerebellum. 2012 Dec;11(4):1026-36. doi: 10.1007/s12311-012-0379-1.

PMID:
22528964
[PubMed - indexed for MEDLINE]
16.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH.

Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.

PMID:
22444671
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria.

Adolphs N, Menneking H, Hoffmeister B, Tinschert S.

J Craniofac Surg. 2011 Nov;22(6):2135-40. doi: 10.1097/SCS.0b013e3182323cfc.

PMID:
22134251
[PubMed - indexed for MEDLINE]
18.

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K.

Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10.

PMID:
21834043
[PubMed - indexed for MEDLINE]
19.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

PMID:
21827697
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Wnt signaling and Dupuytren's disease.

Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR, Nothnagel M, Franke A, Klopp N, Wichmann HE, Nürnberg P, Giele H, Ophoff RA, Wijmenga C; Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines Cohort Study; BSSH-GODD Consortium.

N Engl J Med. 2011 Jul 28;365(4):307-17. doi: 10.1056/NEJMoa1101029. Epub 2011 Jul 6.

PMID:
21732829
[PubMed - indexed for MEDLINE]
Free Article

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