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Items: 1 to 50 of 52

1.

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.

Andres O, König EM, Althaus K, Bakchoul T, Bugert P, Eber S, Knöfler R, Kunstmann E, Manukjan G, Meyer O, Strauß G, Streif W, Thiele T, Wiegering V, Klopocki E, Schulze H; THROMKIDplus Study Group of the Society of Paediatric Oncology Haematology (Gesellschaft für Pädiatrische Onkologie und Hämatologie, GPOH) and the Society of Thrombosis Haemostasis Research (Gesellschaft für Thrombose- und Hämostaseforschung, GTH) .

TH Open. 2018 Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct.

2.

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT.

Eur J Hum Genet. 2019 Jul;27(7):1061-1071. doi: 10.1038/s41431-019-0362-0. Epub 2019 Feb 26.

3.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

4.

Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.

Seefried L, Baumann J, Hemsley S, Hofmann C, Kunstmann E, Kiese B, Huang Y, Chivers S, Valentin MA, Borah B, Roubenoff R, Junker U, Jakob F.

J Clin Invest. 2017 Jun 1;127(6):2148-2158. doi: 10.1172/JCI83731. Epub 2017 Apr 24.

5.

Low-energy trauma-induced intercondylar femoral fracture.

Aeby M, Wyss T, Mentrup B, Kunstmann E, Jakob F, Aeberli D.

Clin Cases Miner Bone Metab. 2016 May-Aug;13(2):151-153. Epub 2016 Oct 5.

6.

ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S.

J Neurol. 2017 Jan;264(1):11-20. doi: 10.1007/s00415-016-8301-2. Epub 2016 Oct 13.

PMID:
27738760
7.

Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex.

Freiberg FJ, Kunstmann E, König T, Matlach J, Kampik D.

GMS Ophthalmol Cases. 2016 Sep 2;6:Doc09. eCollection 2016.

8.

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

Doppler K, Kunstmann E, Krüger S, Sommer C.

Muscle Nerve. 2017 May;55(5):752-755. doi: 10.1002/mus.25410. Epub 2017 Feb 13.

PMID:
27649278
9.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B.

PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016.

10.

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Heinrich T, Nanda I, Rehn M, Zollner U, Ernestus K, Wirth C, Schlüter G, Schmid M, Kunstmann E.

Cytogenet Genome Res. 2015;145(1):25-8. doi: 10.1159/000381169. Epub 2015 Mar 25.

PMID:
25823796
11.

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium.

Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2.

12.

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.

13.

A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

Petrova E, Neuner C, Haaf T, Schmid M, Wirbelauer J, Jurkutat A, Wermke K, Nanda I, Kunstmann E.

Mol Syndromol. 2014 Jan;5(1):19-24. doi: 10.1159/000355847. Epub 2013 Nov 2.

14.

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E.

Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29.

15.

Rare copy number variants are a common cause of short stature.

Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT.

PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14.

16.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.

Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.

17.

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E.

Eur J Med Genet. 2012 Mar;55(3):211-5. doi: 10.1016/j.ejmg.2012.01.011. Epub 2012 Jan 31.

PMID:
22361651
18.

Vacuolating cytotoxin and variants in Atg16L1 that disrupt autophagy promote Helicobacter pylori infection in humans.

Raju D, Hussey S, Ang M, Terebiznik MR, Sibony M, Galindo-Mata E, Gupta V, Blanke SR, Delgado A, Romero-Gallo J, Ramjeet MS, Mascarenhas H, Peek RM, Correa P, Streutker C, Hold G, Kunstmann E, Yoshimori T, Silverberg MS, Girardin SE, Philpott DJ, El Omar E, Jones NL.

Gastroenterology. 2012 May;142(5):1160-71. doi: 10.1053/j.gastro.2012.01.043. Epub 2012 Feb 11.

19.

[Muir-Torre syndrome. An interdisciplinary challenge].

Anders D, Kneitz H, Kunstmann E, Bröcker EB, Benoit S.

Hautarzt. 2012 Mar;63(3):226-9. doi: 10.1007/s00105-011-2213-y. German.

PMID:
21858561
20.

Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.

Hasenbring MI, Kreddig N, Deges G, Epplen JT, Kunstmann E, Stemmler S, Schulmann K, Willert J, Schmiegel W.

Genet Test Mol Biomarkers. 2011 Apr;15(4):219-25. doi: 10.1089/gtmb.2010.0165. Epub 2010 Dec 31.

PMID:
21194311
21.

Positive family history of idiopathic sudden sensorineural hearing loss.

Gäckler A, Eickelmann AK, Brors D, Dazert S, Epplen JT, Kunstmann E.

Eur Arch Otorhinolaryngol. 2010 Dec;267(12):1843-8. doi: 10.1007/s00405-010-1310-3. Epub 2010 Jul 1.

PMID:
20593290
22.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G.

Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5.

23.

Sudden hearing loss due to fibromuscular dysplasia.

Kunstmann E, Eickelmann A, Sudhoff H, Pearson M, Brors D.

J Laryngol Otol. 2009 Mar;123(3):359-62. doi: 10.1017/S0022215108003836. Epub 2008 Oct 17.

PMID:
18925996
24.

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E.

Eur J Hum Genet. 2009 Mar;17(3):295-300. doi: 10.1038/ejhg.2008.164. Epub 2008 Sep 10.

25.

Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.

Frank B, Burwinkel B, Bermejo JL, Försti A, Hemminki K, Houlston R, Mangold E, Rahner N, Friedl W, Friedrichs N, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Morak M, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P; German HNPCC Consortium.

Cancer Lett. 2008 Nov 18;271(1):153-7. doi: 10.1016/j.canlet.2008.05.043. Epub 2008 Jul 10.

PMID:
18619730
26.

[Clinical characterization of patients with idiopathic sudden sensorineural hearing loss].

Brors D, Eickelmann AK, Gäckler A, Sudhoff H, Lautermann J, Dazert S, Kunstmann E.

Laryngorhinootologie. 2008 Jun;87(6):400-5. doi: 10.1055/s-2007-995466. Epub 2008 Jan 30. German.

PMID:
18236360
27.

Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.

Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, Friedrichs N, Propping P, Krüger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G; German HNPCC Consortium.

J Clin Oncol. 2006 Sep 10;24(26):4285-92. Epub 2006 Aug 14.

PMID:
16908935
28.

[Gynecological outpatient management in HNPCC].

Bach K, Preyer J, Jensen A, Epplen JT, Kunstmann E.

Zentralbl Gynakol. 2006 Aug;128(4):207-12. German.

PMID:
16835815
29.

Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer.

Krüger S, Engel C, Bier A, Mangold E, Pagenstecher C, Doeberitz Mv, Holinski-Feder E, Moeslein G, Keller G, Kunstmann E, Friedl W, Plaschke J, Rüschoff J, Schackert HK; German HNPCC-Consortium.

Cancer Lett. 2006 May 18;236(2):191-7.

PMID:
16832876
30.

Genetic counseling for the public?

Kunstmann E, Epplen JT.

Community Genet. 2006;9(1):62-6. Review.

PMID:
16490961
31.

Electrophoresis of DNA in human genetic diagnostics - state-of-the-art, alternatives and future prospects.

Gödde R, Akkad DA, Arning L, Dekomien G, Herchenbach J, Kunstmann E, Meins M, Wieczorek S, Epplen JT, Hoffjan S.

Electrophoresis. 2006 Mar;27(5-6):939-46. Review.

PMID:
16470775
32.

[Evaluation of outpatient management in HNPCC].

Bach K, Hüppe D, Schmiegel W, Epplen JT, Kunstmann E.

Z Gastroenterol. 2005 Jul;43(7):647-51. German.

PMID:
16001346
33.

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Müller-Koch Y, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P.

Int J Cancer. 2005 Sep 20;116(5):692-702.

34.

HNPCC-associated small bowel cancer: clinical and molecular characteristics.

Schulmann K, Brasch FE, Kunstmann E, Engel C, Pagenstecher C, Vogelsang H, Krüger S, Vogel T, Knaebel HP, Rüschoff J, Hahn SA, Knebel-Doeberitz MV, Moeslein G, Meltzer SJ, Schackert HK, Tympner C, Mangold E, Schmiegel W; German HNPCC Consortium.

Gastroenterology. 2005 Mar;128(3):590-9.

PMID:
15765394
35.

Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.

Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Möslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF; German HNPCC Consortium.

Oncogene. 2005 Apr 7;24(15):2525-35.

PMID:
15735733
36.

[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].

Kunstmann E, Hildmann A, Lautermann J, Aletsee C, Epplen JT, Sudhoff H.

HNO. 2005 Sep;53(9):773-8. German.

PMID:
15502895
37.

Impact of genetic counseling and testing on colorectal cancer screening behavior.

Kunstmann E, Generalow A, Epplen JT, Schulmann K.

Genet Test. 2004 Summer;8(2):79. No abstract available.

PMID:
15345101
38.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D.

Eur J Hum Genet. 2004 Nov;12(11):879-90.

39.

HNPCC: six new pathogenic mutations.

Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W.

BMC Med Genet. 2004 Jun 24;5:16.

40.

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.

Jagiello P, Gencik M, Arning L, Wieczorek S, Kunstmann E, Csernok E, Gross WL, Epplen JT.

Hum Genet. 2004 Apr;114(5):468-77. Epub 2004 Feb 14.

PMID:
14968360
41.

[Hereditary intestinal cancer. Linking a specialized center with general medical practice].

Kunstmann E, Rusche H.

Dtsch Med Wochenschr. 2004 Jan 2;129(1-2):23-4. German. No abstract available.

PMID:
14703577
42.

Helicobacter pylori infection: CagA-specific antibodies are associated with clinical outcome, but not with HLA-class II polymorphisms of the host.

Kunstmann E, Hardt C, Crabtree JE, Suerbaum S, Epplen JT.

Int J Med Microbiol. 2003 Feb;292(7-8):537-40.

PMID:
12635936
43.

In the European population HLA-class II genes are not associated with Helicobacter pylori infection.

Kunstmann E, Hardt C, Treitz H, Suerbaum S, Faller G, Peitz U, Schmiegel W, Epplen JT.

Eur J Gastroenterol Hepatol. 2002 Jan;14(1):49-53.

PMID:
11782575
44.

[Lip-jaw-palate clefts. Heterogenous disease pictures].

Kunstmann E, Radtke J, Epplen JT.

Mund Kiefer Gesichtschir. 2001 Sep;5(5):305-11. Review. German.

PMID:
11693021
45.

The nonfunctional allele TCRBV6S1B is strongly associated with Helicobacter pylori infection.

Kunstmann E, Hardt C, Elitok E, Harder M, Suerbaum S, Peitz U, Schmiegel W, Epplen JT.

Infect Immun. 2000 Nov;68(11):6493-5.

46.

Antigenic phenotyping of lymphoid cells and B cell gene rearrangement in type B gastritis and in gastritis not associated with Helicobacter pylori colonization.

Fritscher-Ravens A, Petrasch S, Tiemann M, Wacker H, Dörr T, Kemmeries G, Hilgers W, Reinacher-Schick A, Kunstmann E, Schmiegel W.

Acta Haematol. 1999;102(2):77-82.

PMID:
10529510
47.

Helicobacter pylori infection and polymorphisms in the tumor necrosis factor region.

Kunstmann E, Epplen C, Elitok E, Harder M, Suerbaum S, Peitz U, Schmiegel W, Epplen JT.

Electrophoresis. 1999 Jun;20(8):1756-61.

PMID:
10435444
48.

Helicobacter pylori induces apoptosis in mucosal lymphocytes in patients with gastritis.

Reinacher-Schick A, Petrasch S, Burger A, Suerbaum S, Kunstmann E, Schmiegel W.

Z Gastroenterol. 1998 Dec;36(12):1021-6.

PMID:
10025053
49.

Free recombination within Helicobacter pylori.

Suerbaum S, Smith JM, Bapumia K, Morelli G, Smith NH, Kunstmann E, Dyrek I, Achtman M.

Proc Natl Acad Sci U S A. 1998 Oct 13;95(21):12619-24.

50.

[Diagnosis using genetic fingerprinting and DNA profiles].

Kunstmann E, Epplen JT.

Dtsch Med Wochenschr. 1996 Oct 25;121(43):1331-4. Review. German. No abstract available.

PMID:
8964214

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