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Items: 1 to 50 of 67

1.

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Chacon-Camacho OF, Lopez-Moreno D, Morales-Sanchez MA, Hofmann E, Pacheco-Quito M, Wieland I, Cortes-Gonzalez V, Villanueva-Mendoza C, Zenker M, Zenteno JC.

Mol Genet Genomic Med. 2019 May;7(5):e625. doi: 10.1002/mgg3.625. Epub 2019 Mar 19.

2.

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Ulrich M, Tinschert S, Siebert E, Franke I, Tüting T, Ulrich J, Schanze D, Wieland I, Zenker M.

Pigment Cell Melanoma Res. 2019 May;32(3):470-473. doi: 10.1111/pcmr.12761. Epub 2018 Dec 21. No abstract available.

PMID:
30548225
3.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ.

Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.

4.

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Zenker M, Tinschert S, Wieland I, Schanze D, Happle R.

Acta Derm Venereol. 2018 Apr 27;98(5):534-535. doi: 10.2340/00015555-2883. No abstract available.

5.

Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children.

Barthlen W, Varol E, Empting S, Wieland I, Zenker M, Mohnike W, Vogelgesang S, Mohnike K.

Pediatr Endocrinol Rev. 2016 Dec;14(2):129-137. doi: 10.17458/PER.2016.BVE.Surgeryinfocal.

PMID:
28508606
6.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M.

Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29.

PMID:
26970110
7.

Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations.

Lachmann MJ, Salgin B, Kummer S, Welters A, Döing C, Zenker M, Wieland I, Mayatepek E, Meissner T.

J Pediatr Endocrinol Metab. 2016 Mar;29(3):281-7. doi: 10.1515/jpem-2015-0192.

PMID:
26581065
8.

Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.

Hoffmann MB, Thieme H, Liedecke K, Meltendorf S, Zenker M, Wieland I.

Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7427-37. doi: 10.1167/iovs.15-17705.

PMID:
26580852
9.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement.

Körtvelyessy P, Krägeloh-Mann I, Mawrin C, Heinze HJ, Bittner D, Wieland I, Zenker M, Nestor P.

J Neurol Sci. 2015 Nov 15;358(1-2):515-7. doi: 10.1016/j.jns.2015.09.370. Epub 2015 Sep 28. No abstract available.

PMID:
26476772
10.

Genetic Variants of DICE1/INTS6 in German Prostate Cancer Families with Linkage to 13q14.

Böhm M, Maier C, Küfer R, Röpke A, Vogel W, Wieland I.

Urol Int. 2015;95(4):386-9. doi: 10.1159/000366229. Epub 2015 Jan 31.

PMID:
25660097
11.

Long-term remission of recurrent thrombotic thrombocytopenic purpura (TTP) after Rituximab in children and young adults.

Wieland I, Kentouche K, Jentzsch M, Lothschütz D, Graf N, Sykora KW.

Pediatr Blood Cancer. 2015 May;62(5):823-9. doi: 10.1002/pbc.25398. Epub 2015 Jan 13.

PMID:
25623397
12.

[Therapy of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e. V.)].

Streif W, Knöfler R, Eberl W, Andres O, Bakchoul T, Bergmann F, Beutel K, Dittmer R, Gehrisch S, Gottstein S, Halimeh S, Haselböck J, Hassenpflug WA, Heine S, Holzhauer S, King S, Kirchmaier CM, Krause M, Kreuz W, Lösche W, Mahnel R, Maurer M, Nimtz-Talaska A, Olivieri M, Rott H, Schambeck ChM, Schedel A, Schilling FH, Schmugge M, Schneppenheim R, Scholz U, Scholz T, Schulze H, Siegemund A, Strauß G, Sykora KW, Wermes C, Wiegering V, Wieland I, Zieger B, Zotz RB; Paediatric Committee of the Society of Thrombosis and Haemostasis Research.

Hamostaseologie. 2014;34(4):269-75, quiz 276. doi: 10.5482/HAMO-2014040001. German.

PMID:
25370176
13.

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
14.

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.

Goyal M, Pradhan G, Wieland I, Kapoor S.

Cleft Palate Craniofac J. 2015 Mar;52(2):234-6. doi: 10.1597/13-354. Epub 2014 Jun 11.

PMID:
24919122
15.

Efficient chromosomal gene modification with CRISPR/cas9 and PCR-based homologous recombination donors in cultured Drosophila cells.

Böttcher R, Hollmann M, Merk K, Nitschko V, Obermaier C, Philippou-Massier J, Wieland I, Gaul U, Förstemann K.

Nucleic Acids Res. 2014 Jun;42(11):e89. doi: 10.1093/nar/gku289. Epub 2014 Apr 19.

16.

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

Mohnike K, Wieland I, Barthlen W, Vogelgesang S, Empting S, Mohnike W, Meissner T, Zenker M.

Horm Res Paediatr. 2014;81(3):156-68. doi: 10.1159/000356905. Epub 2014 Jan 7.

PMID:
24401662
17.

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D.

Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.

PMID:
24376213
18.

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
19.

Neonatal aortic arch thrombosis: analysis of thrombophilic risk factors and prognosis.

Wieland I, Jack T, Seidemann K, Boehne M, Schmidt F, Happel CM, Koeditz H, Bertram H, Sasse M.

Cardiol Young. 2014 Feb;24(1):33-9. doi: 10.1017/S1047951112002077. Epub 2013 Jan 21. Review.

PMID:
23336428
20.

Inhibitor-immunology-study. Evaluation of inhibitor development in haemophilia B.

Wieland I, Wermes C, Eifrig B, Holstein K, Pollmann H, Siegmund B, Eberl W, Kemkes-Matthes B, Bidlingmaier C, Kurnik K, Lischetzki G, Nimtz-Talaska A, Eisert R, Bogdanova N, Doerk T, Sykora KW.

Hamostaseologie. 2011 Nov;31 Suppl 1:S57-60.

PMID:
22057736
21.

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Makarov R, Steiner B, Gucev Z, Tasic V, Wieacker P, Wieland I.

BMC Med Genet. 2010 Jun 17;11:98. doi: 10.1186/1471-2350-11-98.

22.

INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling.

Filleur S, Hirsch J, Wille A, Schön M, Sell C, Shearer MH, Nelius T, Wieland I.

Cancer Cell Int. 2009 Nov 11;9:28. doi: 10.1186/1475-2867-9-28.

23.

Inhibitor-Immunology-Study. Different HLA-types seem to be involved in the inhibitor development in haemophilia A.

Wieland I, Wermes C, Eifrig B, Holstein K, Pollmann H, Siegmund B, Bidlingmaier C, Kurnik K, Nimtz-Talaska A, Niekrens C, Eisert R, Tiede A, Ebenebe C, Lakomek M, Hoy L, Welte K, Sykora KW.

Hamostaseologie. 2008 Oct;28 Suppl 1:S26-8.

PMID:
18958335
24.

Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.

Wieacker P, Apeshiotis N, Jakubiczka S, Volleth M, Wieland I.

Sex Dev. 2007;1(1):35-41. doi: 10.1159/000096237.

25.

Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.

Wieland I, Bohring A, Wieacker P.

Hum Genet. 2008 Feb;123(1):105. No abstract available.

PMID:
18386327
26.

Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.

Wieland I, Wieacker P, Prager B.

Hum Genet. 2008 Feb;123(1):105. No abstract available.

PMID:
18386322
27.
28.

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.

Eur J Hum Genet. 2008 Feb;16(2):184-91. Epub 2007 Nov 28.

29.

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
30.

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.

Clin Genet. 2007 Dec;72(6):506-16. Epub 2007 Oct 16.

PMID:
17941886
31.

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551.

Jakubiczka S, Wieland I, Wohlfahrt K, Niederstrasser N, Wieacker P.

Hum Genet. 2006 Feb;118(6):781. No abstract available.

PMID:
17297707
32.

Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550.

Jakubiczka S, Wieland I, Grieger M, Wieacker P.

Hum Genet. 2006 Feb;118(6):781. No abstract available.

PMID:
17297706
33.

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
34.

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

Wieacker P, Wieland I.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):110-6. Review.

PMID:
16143553
35.

Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer.

Röpke A, Buhtz P, Böhm M, Seger J, Wieland I, Allhoff EP, Wieacker PF.

Oncogene. 2005 Oct 6;24(44):6667-75.

PMID:
16007164
36.

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, König R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P.

Hum Mutat. 2005 Aug;26(2):113-8.

PMID:
15959873
37.

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

Wieland I, Sabathil J, Ostendorf A, Rittinger O, Röpke A, Winnepenninckx B, Kooy F, Holinski-Feder E, Wieacker P.

Neurogenetics. 2005 Feb;6(1):45-7. No abstract available.

PMID:
15565397
38.

Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer.

Drewniok C, Wienrich BG, Schön M, Ulrich J, Zen Q, Telen MJ, Hartig RJ, Wieland I, Gollnick H, Schön MP.

Arch Dermatol Res. 2004 Jul;296(2):59-66. Epub 2004 Jun 15.

PMID:
15278364
39.

Ectopic expression of DICE1 suppresses tumor cell growth.

Wieland I, Sell C, Weidle UH, Wieacker P.

Oncol Rep. 2004 Aug;12(2):207-11.

PMID:
15254679
40.

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.

41.

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.

42.

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
43.

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
44.

Loss of heterozygosity on chromosome 5p13-12 predicts adverse prognosis in advanced bladder cancer independent of tumor stage and grade.

Böhm M, Wieland I, Schmidt C, Rubben H, Allhoff EP.

J Urol. 2002 Dec;168(6):2655-8. Erratum in: J Urol. 2003 Mar;169(3):1090..

PMID:
12442004
45.

Infrequent genetic alterations of the tumor suppressor gene PTEN/MMAC1 in squamous cell carcinoma of the oral cavity.

Mavros A, Hahn M, Wieland I, Koy S, Koufaki ON, Strelocke K, Koch R, Haroske G, Schackert HK, Eckelt U.

J Oral Pathol Med. 2002 May;31(5):270-6.

PMID:
12110043
46.

Molecular characterization of the DICE1 (DDX26) tumor suppressor gene in lung carcinoma cells.

Wieland I, Röpke A, Stumm M, Sell C, Weidle UH, Wieacker PF.

Oncol Res. 2001;12(11-12):491-500.

PMID:
11939413
47.
48.

Genetic alterations of the tumor suppressor gene PTEN/MMAC1 in human brain metastases.

Hahn M, Wieland I, Koufaki ON, Görgens H, Sobottka SB, Schackert G, Schackert HK.

Clin Cancer Res. 1999 Sep;5(9):2431-7.

49.

Isolation of DICE1: a gene frequently affected by LOH and downregulated in lung carcinomas.

Wieland I, Arden KC, Michels D, Klein-Hitpass L, Böhm M, Viars CS, Weidle UH.

Oncogene. 1999 Aug 12;18(32):4530-7.

50.

A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer.

Tran YK, Bögler O, Gorse KM, Wieland I, Green MR, Newsham IF.

Cancer Res. 1999 Jan 1;59(1):35-43.

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