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Items: 37

1.

Mutation in Nav 1.7 causes high olfactory sensitivity.

Haehner A, Hummel T, Heinritz W, Krueger S, Meinhardt M, Whitcroft KL, Sabatowski R, Gossrau G.

Eur J Pain. 2018 Nov;22(10):1767-1773. doi: 10.1002/ejp.1272. Epub 2018 Jul 11.

PMID:
29934995
2.

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K.

Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.

PMID:
28661489
3.

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.

Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30.

PMID:
27240540
4.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. No abstract available.

PMID:
26220135
5.

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Erratum in: Nat Genet. 2015 Aug;47(8):962.

PMID:
26005867
6.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D.

BMC Med Genet. 2014 Nov 30;15:127. doi: 10.1186/s12881-014-0127-0.

7.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P.

Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.

8.

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.

Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.

9.

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L, Healey S, Sinilnikova OM, Janavicius R, Hansen Tv, Nielsen FC, Ejlertsen B, Osorio A, Muñoz-Repeto I, Durán M, Godino J, Pertesi M, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Bonanni B, Viel A, Pasini B, Papi L, Ottini L, Savarese A, Bernard L, Radice P, Hamann U, Verheus M, Meijers-Heijboer HE, Wijnen J, Gómez García EB, Nelen MR, Kets CM, Seynaeve C, Tilanus-Linthorst MM, van der Luijt RB, van Os T, Rookus M, Frost D, Jones JL, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Cook J, Donaldson A, Dorkins H, Gregory H, Eason J, Houghton C, Barwell J, Side LE, McCann E, Murray A, Peock S, Godwin AK, Schmutzler RK, Rhiem K, Engel C, Meindl A, Ruehl I, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Kast K, Preisler-Adams S, Varon-Mateeva R, Schoenbuchner I, Fiebig B, Heinritz W, Schäfer D, Gevensleben H, Caux-Moncoutier V, Fassy-Colcombet M, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Hardouin A, Berthet P, Muller D, Fricker JP, Mortemousque I, Pujol P, Coupier I, Lebrun M, Kientz C, Longy M, Sevenet N, Stoppa-Lyonnet D, Isaacs C, Caldes T, de la Hoya M, Heikkinen T, Aittomäki K, Blanco I, Lazaro C, Barkardottir RB, Soucy P, Dumont M, Simard J, Montagna M, Tognazzo S, D'Andrea E, Fox S, Yan M, Rebbeck T, Olopade O, Weitzel JN, Lynch HT, Ganz PA, Tomlinson GE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet M, Bhatia J, Kauff N, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Mai PL, Greene MH, Imyanitov E, O'Malley FP, Ozcelik H, Glendon G, Toland AE, Gerdes AM, Thomassen M, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Soller M, Henriksson K, Wachenfeldt vA, Arver B, Stenmark-Askmalm M, Karlsson P, Ding YC, Neuhausen SL, Beattie M, Pharoah PD, Moysich KB, Nathanson KL, Karlan BY, Gross J, John EM, Daly MB, Buys SM, Southey MC, Hopper JL, Terry MB, Chung W, Miron AF, Goldgar D, Chenevix-Trench G, Easton DF, Andrulis IL, Antoniou AC; Breast Cancer Family Registry; EMBRACE; GEMO Study Collaborators; HEBON; kConFab Investigators; Ontario Cancer Genetics Network; SWE-BRCA; CIMBA.

Breast Cancer Res. 2011;13(6):R110. doi: 10.1186/bcr3052. Epub 2011 Nov 2.

10.

Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers.

Dick MG, Versmold B, Engel C, Meindl A, Arnold N, Varon-Mateeva R, Sutter C, Niederacher D, Deissler H, Preisler-Adams S, Kast K, Schäfer D, Gadzicki D, Heinritz W, Wappenschmidt B, Schmutzler RK.

Int J Cancer. 2012 Mar 15;130(6):1314-8. doi: 10.1002/ijc.26134. Epub 2011 May 30.

11.

[Risperidone intoxication in a patient with a genetic predisposition as "poor [non]metabolizer"].

Strauss M, Heinritz W, Hegerl U, Kopf A.

Psychiatr Prax. 2010 May;37(4):199-201. doi: 10.1055/s-0029-1223511. Epub 2010 Mar 11. German.

PMID:
20225176
12.

Evaluation of IP-RP-HPLC for length determination of the trinucleotide repeat fragments in Huntington's disease.

Skrzypczak M, Heinritz W, Schulz AM, Mierzejewski M, Froster UG.

J Chromatogr Sci. 2010 Jan;48(1):55-8.

PMID:
20056037
13.

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.

Amaro C, Freitas I, Lamarão P, Afonso A, Skrzypczak M, Heinritz W.

J Eur Acad Dermatol Venereol. 2010 Jul;24(7):844-6. doi: 10.1111/j.1468-3083.2009.03497.x. Epub 2009 Nov 19.

PMID:
19929939
14.

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.

Ann Hum Genet. 2009 May;73(Pt 3):283-91. doi: 10.1111/j.1469-1809.2009.00508.x. Epub 2009 Mar 25.

15.

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.

Heinritz W, Strenge S, Kujat A, Hockel M, Froster UG.

Onkologie. 2008 Nov;31(11):625-8. doi: 10.1159/000162284. Epub 2008 Oct 27.

PMID:
19145097
16.

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Völcker HE, Schulze DP, Heinritz W, Reinhard T, Froster U, Duncker G, Schorderet D, Auw-Haedrich C.

Br J Ophthalmol. 2009 Jul;93(7):932-7. doi: 10.1136/bjo.2008.142927. Epub 2008 Nov 10.

PMID:
19001012
17.

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Böhm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J, Froster U.

BMC Med Genet. 2008 Oct 1;9:88. doi: 10.1186/1471-2350-9-88.

18.

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

Scheid R, Heinritz W, Leyhe T, Thal DR, Schober R, Strenge S, von Cramon DY, Froster UG.

Neurology. 2008 Sep 2;71(10):774-6. doi: 10.1212/01.wnl.0000324928.44694.f7. No abstract available.

PMID:
18765654
19.

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Gruenauer-Kloevekorn C, Braeutigam S, Heinritz W, Froster UG, Duncker GI.

Graefes Arch Clin Exp Ophthalmol. 2008 Oct;246(10):1441-7. doi: 10.1007/s00417-008-0836-1. Epub 2008 May 24.

PMID:
18500531
20.

A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis.

Renner R, Paasch U, Simon JC, Froster UG, Heinritz W.

J Eur Acad Dermatol Venereol. 2008 Jun;22(6):750-1. doi: 10.1111/j.1468-3083.2007.02447.x. No abstract available.

PMID:
18482034
21.

Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system.

Wegner F, Strecker K, Schwarz J, Wagner A, Heinritz W, Sommerer F, Thal DR, Schneider JP, Kendziorra K, Sabri O.

J Neurol. 2007 Dec;254(12):1743-5. Epub 2007 Nov 21. No abstract available.

PMID:
18004646
22.

Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).

Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R.

Ann Hum Genet. 2008 Jan;72(Pt 1):35-40. Epub 2006 Oct 1.

23.

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.

Strenge S, Heinritz W, Zweier C, Rauch A, Rolle U, Merkenschlager A, Froster UG.

Am J Med Genet A. 2007 Jul 1;143A(13):1528-30. No abstract available.

PMID:
17567886
24.

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy].

Grünauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Völcker HE, Heinritz W, Froster U, Duncker G.

Klin Monbl Augenheilkd. 2006 Oct;223(10):829-36. German.

PMID:
17063427
25.

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.

Am J Med Genet A. 2006 Jun 1;140(11):1223-7.

PMID:
16688751
26.

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

Uçar C, Calýskan U, Martini S, Heinritz W.

J Pediatr Hematol Oncol. 2006 Mar;28(3):123-5.

PMID:
16679933
27.

A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene.

Heinritz W, Grunewald S, Strenge S, Schütz A, Froster UG, Glander HJ, Paasch U, Simon JC.

Br J Dermatol. 2006 May;154(5):992-4. No abstract available.

PMID:
16634909
28.

MYH Gene Status in Polish FAP Patients without APC Gene Mutations.

Skrzypczak M, Podralska M, Heinritz W, Froster UG, Lipiński D, Słomski R, Pławski A.

Hered Cancer Clin Pract. 2006 Jan 15;4(1):43-7. doi: 10.1186/1897-4287-4-1-43.

29.

The human TBX5 gene mutation database.

Heinritz W, Shou L, Moschik A, Froster UG.

Hum Mutat. 2005 Oct;26(4):397.

PMID:
16134140
30.

Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.

Teich N, Nemoda Z, Köhler H, Heinritz W, Mössner J, Keim V, Sahin-Tóth M.

Hum Mutat. 2005 Apr;25(4):343-7.

31.

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].

Heinritz W, Pretzsch M, Koall S, Matzen PF, Froster UG.

Orthopade. 2005 May;34(5):470-6. German.

PMID:
15739063
32.

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG.

Heart. 2005 Mar;91(3):383-4. No abstract available.

33.

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG.

Am J Med Genet A. 2005 Jan 15;132A(2):198-201.

PMID:
15578587
34.

Pre-eclampsia as a 'three stage problem'--a workshop report.

Stepan H, Faber R, Froster UG, Heinritz W, Wallaschofski H, Dechend R, Walther T, Huppertz B.

Placenta. 2004 Jul;25(6):585-7. No abstract available.

PMID:
15190873
35.

Another case of autosomal dominant exstrophy of the bladder.

Froster UG, Heinritz W, Bennek J, Horn LC, Faber R.

Prenat Diagn. 2004 May;24(5):375-7.

PMID:
15164413
36.

[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].

Froster UG, Glander HJ, Heinritz W.

Hautarzt. 2003 Dec;54(12):1190-2. German.

PMID:
14634749
37.

Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography.

Heinritz W, Kujat A, Froster UG.

Clin Genet. 2003 Apr;63(4):325-7. No abstract available.

PMID:
12702169

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