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Items: 25

1.

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.

Karoglan A, Schanze D, Bär C, Muschke P, Zenker M, Schanze I.

Am J Med Genet A. 2019 May;179(5):832-836. doi: 10.1002/ajmg.a.61093. Epub 2019 Feb 25.

PMID:
30803155
2.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
3.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

4.

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.

Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, Ziemkiewicz K, Gerloff C, Schanze D, Zenker M, Muschke P, Schanze I, Poot M, Liehr T.

Mol Syndromol. 2016 Feb;6(5):210-21. doi: 10.1159/000441408. Epub 2015 Oct 31.

5.

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.

Wieland I, Schanze D, Schanze I, Volleth M, Muschke P, Zenker M.

Am J Med Genet A. 2014 Dec;164A(12):3213-4. doi: 10.1002/ajmg.a.36765. Epub 2014 Sep 23. No abstract available.

PMID:
25251057
6.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.

7.

Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.

Mirastschijski U, Altmann S, Lenz-Scharf O, Muschke P, Schneider W.

J Plast Surg Hand Surg. 2012 Feb;46(1):45-8. doi: 10.1080/02844310902957728. Epub 2010 Sep 6.

PMID:
21446802
8.

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M.

Clin Genet. 2008 Aug;74(2):171-7. doi: 10.1111/j.1399-0004.2008.01029.x. Epub 2008 May 21.

PMID:
18498373
9.
10.

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P.

Am J Med Genet A. 2007 Dec 1;143A(23):2810-4.

PMID:
18041775
11.

Male infertility as a component of Carney complex.

Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Buhtz P, Muschke P.

Andrologia. 2007 Oct;39(5):196-7. Erratum in: Andrologia. 2009 Jun;41(3):202. Buhtz, P [added].

PMID:
17714219
12.

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.

Schulz S, Vielhaber S, Muschke P, Mohnike K, Gooding R, Wieacker P.

Neuropediatrics. 2007 Apr;38(2):88-90.

PMID:
17712737
13.

Feasibility of double-balloon enteroscopy-assisted chromoendoscopy of the small bowel in patients with familial adenomatous polyposis.

Mönkemüller K, Fry LC, Ebert M, Bellutti M, Venerito M, Knippig C, Rickes S, Muschke P, Röcken C, Malfertheiner P.

Endoscopy. 2007 Jan;39(1):52-7.

PMID:
17252461
14.

High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).

Wieland I, Muschke P, Volleth M, Röpke A, Pelz AF, Stumm M, Wieacker P.

Genes Chromosomes Cancer. 2006 Oct;45(10):945-9.

PMID:
16845657
15.

Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.

Am J Med Genet A. 2006 Jun 1;140(11):1219-22.

PMID:
16652358
16.

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.

Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J.

Fertil Steril. 2006 Jan;85(1):135-8.

PMID:
16412743
17.

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S.

Am J Med Genet A. 2005 Jun 15;135(3):251-62.

PMID:
15884042
18.

Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia.

Wieacker P, Muschke P, Pollak KH, Müller R.

Am J Med Genet A. 2005 Jan 30;132A(3):318-9. No abstract available.

PMID:
15690379
19.

Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.

Volleth M, Stumm M, Bürger J, Muschke P, Wieacker P.

Cytogenet Genome Res. 2005;108(4):283-6.

PMID:
15627746
20.

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Zumkeller W, Volleth M, Muschke P, Tönnies H, Heller A, Liehr T, Wieacker P, Stumm M.

Am J Med Genet A. 2004 Sep 1;129A(3):261-4.

PMID:
15326625
21.

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P.

Am J Hum Genet. 2004 Jun;74(6):1209-15. Epub 2004 Apr 29.

22.

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.

Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker PF.

J Med Genet. 2004 May;41(5):e54. No abstract available.

23.

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Muschke P, Gola H, Varon R, Röpke A, Zumkeller W, Wieacker P, Stumm M.

Prenat Diagn. 2004 Feb;24(2):111-3.

PMID:
14974117
24.

Mapping of a further locus for X-linked craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P.

Cytogenet Genome Res. 2002;99(1-4):285-8.

PMID:
12900576
25.

Further delineation of Wittwer syndrome and refinement of the mapping region.

Wieland I, Muschke P, Wieacker P.

Am J Med Genet A. 2003 Jan 1;116A(1):57-60.

PMID:
12476452

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