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Publikationen

Suchbegriffe: PEDIGREE - , . Treffer: 92

2020

Steel, D; Zech, M; Zhao, C; Barwick, KES; Burke, D; Demailly, D; Kumar, KR; Zorzi, G; Nardocci, N; Kaiyrzhanov, R; Wagner, M; Iuso, A; Berutti, R; Škorvánek, M; Necpál, J; Davis, R; Wiethoff, S; Mankad, K; Sudhakar, S; Ferrini, A; Sharma, S; Kamsteeg, EJ; Tijssen, MA; Verschuuren, C; van Egmond, ME; Flowers, JM; McEntagart, M; Tucci, A; Coubes, P; Bustos, BI; Gonzalez-Latapi, P; Tisch, S; Darveniza, P; Gorman, KM; Peall, KJ; Bötzel, K; Koch, JC; Kmieć, T; Plecko, B; Boesch, S; Haslinger, B; Jech, R; Garavaglia, B; Wood, N; Houlden, H; Gissen, P; Lubbe, SJ; Sue, CM; Cif, L; Mencacci, NE; Anderson, G; Kurian, MA; Winkelmann, J; Genomics England Research Consortium Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol. 2020; 88(5):867-877 Doi: 10.1002/ana.25879 [OPEN ACCESS]
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Wang, H; Humbatova, A; Liu, Y; Qin, W; Lee, M; Cesarato, N; Kortüm, F; Kumar, S; Romano, MT; Dai, S; Mo, R; Sivalingam, S; Motameny, S; Wu, Y; Wang, X; Niu, X; Geng, S; Bornholdt, D; Kroisel, PM; Tadini, G; Walter, SD; Hauck, F; Girisha, KM; Calza, AM; Bottani, A; Altmüller, J; Buness, A; Yang, S; Sun, X; Ma, L; Kutsche, K; Grzeschik, KH; Betz, RC; Lin, Z Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet. 2020; 107(1):34-45 Doi: 10.1016/j.ajhg.2020.05.006 [OPEN ACCESS]
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Zech, M; Jech, R; Boesch, S; Škorvánek, M; Weber, S; Wagner, M; Zhao, C; Jochim, A; Necpál, J; Dincer, Y; Vill, K; Distelmaier, F; Stoklosa, M; Krenn, M; Grunwald, S; Bock-Bierbaum, T; Fečíková, A; Havránková, P; Roth, J; Příhodová, I; Adamovičová, M; Ulmanová, O; Bechyně, K; Danhofer, P; Veselý, B; Haň, V; Pavelekova, P; Gdovinová, Z; Mantel, T; Meindl, T; Sitzberger, A; Schröder, S; Blaschek, A; Roser, T; Bonfert, MV; Haberlandt, E; Plecko, B; Leineweber, B; Berweck, S; Herberhold, T; Langguth, B; Švantnerová, J; Minár, M; Ramos-Rivera, GA; Wojcik, MH; Pajusalu, S; Õunap, K; Schatz, UA; Pölsler, L; Milenkovic, I; Laccone, F; Pilshofer, V; Colombo, R; Patzer, S; Iuso, A; Vera, J; Troncoso, M; Fang, F; Prokisch, H; Wilbert, F; Eckenweiler, M; Graf, E; Westphal, DS; Riedhammer, KM; Brunet, T; Alhaddad, B; Berutti, R; Strom, TM; Hecht, M; Baumann, M; Wolf, M; Telegrafi, A; Person, RE; Zamora, FM; Henderson, LB; Weise, D; Musacchio, T; Volkmann, J; Szuto, A; Becker, J; Cremer, K; Sycha, T; Zimprich, F; Kraus, V; Makowski, C; Gonzalez-Alegre, P; Bardakjian, TM; Ozelius, LJ; Vetro, A; Guerrini, R; Maier, E; Borggraefe, I; Kuster, A; Wortmann, SB; Hackenberg, A; Steinfeld, R; Assmann, B; Staufner, C; Opladen, T; Růžička, E; Cohn, RD; Dyment, D; Chung, WK; Engels, H; Ceballos-Baumann, A; Ploski, R; Daumke, O; Haslinger, B; Mall, V; Oexle, K; Winkelmann, J Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol. 2020; 19(11):908-918 Doi: 10.1016/S1474-4422(20)30312-4 [OPEN ACCESS]
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2018

Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bär, S; Kröll, A; Delbarre, M; Antin, M; Leuvrey, AS; Henry, C; Blanché, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, JF; Friant, S; Saunier, S; Rozet, JM; Bergmann, C; Dollfus, H; Muller, J Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
HUM MUTAT. 2018; 39(7): 983-992. Doi: 10.1002/humu.23539 [OPEN ACCESS]
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2017

Plath, J; Siebenhofer, A; Koné, I; Hechtner, M; Schulz-Rothe, S; Beyer, M; Gerlach, FM; Guethlin, C Frequency of a positive family history of colorectal cancer in general practice: a cross-sectional study.
Fam Pract. 2017; 34(1):30-35 Doi: 10.1093/fampra/cmw118 [OPEN ACCESS]
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Skrabl-Baumgartner, A; Plecko, B; Schmidt, WM; König, N; Hershfield, M; Gruber-Sedlmayr, U; Lee-Kirsch, MA Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
Pediatr Rheumatol Online J. 2017; 15(1): 67-67. Doi: 10.1186/s12969-017-0193-x (- Case Report) [OPEN ACCESS]
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Widhalm, K; Benke, IM; Fritz, M; Geiger, H; Helk, O; Fritsch, M; Hoermann, G; Kostner, G Homozygous familial hypercholesterolemia: Summarized case reports.
Atherosclerosis. 2017; 257:86-89 Doi: 10.1016/j.atherosclerosis.2017.01.002 (- Case Report)
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Windpassinger, C; Piard, J; Bonnard, C; Alfadhel, M; Lim, S; Bisteau, X; Blouin, S; Ali, NB; Ng, AYJ; Lu, H; Tohari, S; Talib, SZA; van Hul, N; Caldez, MJ; Van Maldergem, L; Yigit, G; Kayserili, H; Youssef, SA; Coppola, V; de Bruin, A; Tessarollo, L; Choi, H; Rupp, V; Roetzer, K; Roschger, P; Klaushofer, K; Altmüller, J; Roy, S; Venkatesh, B; Ganger, R; Grill, F; Ben Chehida, F; Wollnik, B; Altunoglu, U; Al Kaissi, A; Reversade, B; Kaldis, P CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet. 2017; 101(3): 391-403. Doi: 10.1016/j.ajhg.2017.08.003 [OPEN ACCESS]
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2016

Abela, L; Simmons, L; Steindl, K; Schmitt, B; Mastrangelo, M; Joset, P; Papuc, M; Sticht, H; Baumer, A; Crowther, LM; Mathis, D; Rauch, A; Plecko, B N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
J Inherit Metab Dis. 2016; 39(1): 131-137. Doi: 10.1007/s10545-015-9876-y [OPEN ACCESS]
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Khan, MA; Mohan, S; Zubair, M; Windpassinger, C Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10. Doi: 10.1186/s12881-016-0271-9 [OPEN ACCESS]
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Laghmani, K; Beck, BB; Yang, SS; Seaayfan, E; Wenzel, A; Reusch, B; Vitzthum, H; Priem, D; Demaretz, S; Bergmann, K; Duin, LK; Göbel, H; Mache, C; Thiele, H; Bartram, MP; Dombret, C; Altmüller, J; Nürnberg, P; Benzing, T; Levtchenko, E; Seyberth, HW; Klaus, G; Yigit, G; Lin, SH; Timmer, A; de Koning, TJ; Scherjon, SA; Schlingmann, KP; Bertrand, MJ; Rinschen, MM; de Backer, O; Konrad, M; Kömhoff, M Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016; 374(19): 1853-1863. Doi: 10.1056/NEJMoa1507629 (- Case Report) [OPEN ACCESS]
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Sadovnick, AD; Traboulsee, AL; Bernales, CQ; Ross, JP; Forwell, AL; Yee, IM; Guillot-Noel, L; Fontaine, B; Cournu-Rebeix, I; Alcina, A; Fedetz, M; Izquierdo, G; Matesanz, F; Hilven, K; Dubois, B; Goris, A; Astobiza, I; Alloza, I; Antigüedad, A; Vandenbroeck, K; Akkad, DA; Aktas, O; Blaschke, P; Buttmann, M; Chan, A; Epplen, JT; Gerdes, LA; Kroner, A; Kubisch, C; Kümpfel, T; Lohse, P; Rieckmann, P; Zettl, UK; Zipp, F; Bertram, L; Lill, CM; Fernandez, O; Urbaneja, P; Leyva, L; Alvarez-Cermeño, JC; Arroyo, R; Garagorri, AM; García-Martínez, A; Villar, LM; Urcelay, E; Malhotra, S; Montalban, X; Comabella, M; Berger, T; Fazekas, F; Reindl, M; Schmied, MC; Zimprich, A; Vilariño-Güell, C Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
G3 (Bethesda). 2016; 6(7):2073-2079 Doi: 10.1534/g3.116.030841 [OPEN ACCESS]
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Seidel, MG; Boztug, K; Haas, OA Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?
J Clin Immunol. 2016; 36(1):6-7 Doi: 10.1007/s10875-015-0218-5 (- Case Report) [OPEN ACCESS]
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Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016; 9(2):130-135 Doi: 10.1161/CIRCGENETICS.115.001193 [OPEN ACCESS]
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2015

Aoude, LG; Heitzer, E; Johansson, P; Gartside, M; Wadt, K; Pritchard, AL; Palmer, JM; Symmons, J; Gerdes, AM; Montgomery, GW; Martin, NG; Tomlinson, I; Kearsey, S; Hayward, NK POLE mutations in families predisposed to cutaneous melanoma.
Fam Cancer. 2015; 14(4):621-628 Doi: 10.1007/s10689-015-9826-8
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Guardoli, D; Argenziano, G; Ponti, G; Nasti, S; Zalaudek, I; Moscarella, E; Lallas, A; Piana, S; Specchio, F; Martinuzzi, C; Raucci, M; Pellacani, G; Longo, C A novel CYLD germline mutation in Brooke-Spiegler syndrome.
J Eur Acad Dermatol Venereol. 2015; 29(3):457-462 Doi: 10.1111/jdv.12578 (- Case Report)
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Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710 Doi: 10.1093/hmg/ddv286 (- Case Report) [OPEN ACCESS]
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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638 Doi: 10.1038/ejhg.2014.109 (- Case Report) [OPEN ACCESS]
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Rafiq, MA; Leblond, CS; Saqib, MA; Vincent, AK; Ambalavanan, A; Khan, FS; Ayaz, M; Shaheen, N; Spiegelman, D; Ali, G; Amin-ud-Din, M; Laurent, S; Mahmood, H; Christian, M; Ali, N; Fennell, A; Nanjiani, Z; Egger, G; Caron, C; Waqas, A; Ayub, M; Rasheed, S; Forgeot d'Arc, B; Johnson, A; So, J; Brohi, MQ; Mottron, L; Ansar, M; Vincent, JB; Xiong, L Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet. 2015; 16(7):41-41 Doi: 10.1186/s12881-015-0183-0 (- Case Report) [OPEN ACCESS]
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Reinthaler, EM; Dejanovic, B; Lal, D; Semtner, M; Merkler, Y; Reinhold, A; Pittrich, DA; Hotzy, C; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Neophytou, B; Geldner, J; Haberlandt, E; Muhle, H; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Altmüller, J; Kawalia, A; Toliat, MR; EuroEPINOMICS Consortium; Nürnberg, P; Lerche, H; Nothnagel, M; Thiele, H; Sander, T; Meier, JC; Schwarz, G; Neubauer, BA; Zimprich, F Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015; 77(6):972-986 Doi: 10.1002/ana.24395
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Sadowski, CE; Lovric, S; Ashraf, S; Pabst, WL; Gee, HY; Kohl, S; Engelmann, S; Vega-Warner, V; Fang, H; Halbritter, J; Somers, MJ; Tan, W; Shril, S; Fessi, I; Lifton, RP; Bockenhauer, D; El-Desoky, S; Kari, JA; Zenker, M; Kemper, MJ; Mueller, D; Fathy, HM; Soliman, NA; SRNS Study Group; Hildebrandt, F A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015; 26(6): 1279-1289. Doi: 10.1681/ASN.2014050489 [OPEN ACCESS]
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Schwark, T; Modrow, JH; Steinmeier, E; Poetsch, M; Hasse, J; Fischer, H; von Wurmb-Schwark, N The auditory ossicles as a DNA source for genetic identification of highly putrefied cadavers.
Int J Legal Med. 2015; 129(3):457-462 Doi: 10.1007/s00414-015-1177-3
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2014

Basmanav, FB; Oprisoreanu, AM; Pasternack, SM; Thiele, H; Fritz, G; Wenzel, J; Größer, L; Wehner, M; Wolf, S; Fagerberg, C; Bygum, A; Altmüller, J; Rütten, A; Parmentier, L; El Shabrawi-Caelen, L; Hafner, C; Nürnberg, P; Kruse, R; Schoch, S; Hanneken, S; Betz, RC Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Am J Hum Genet. 2014; 94(1):135-143 Doi: 10.1016/j.ajhg.2013.12.003 [OPEN ACCESS]
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Coyle, D; Friedmacher, F; Puri, P The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
Pediatr Surg Int. 2014; 30(8):751-756 Doi: 10.1007/s00383-014-3538-2
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Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530 Doi: 10.1007/s12041-014-0394-8 [OPEN ACCESS]
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949 Doi: 10.1093/hmg/ddu318 [OPEN ACCESS]
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Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet. 2014; 15(10):107-107 Doi: 10.1186/s12881-014-0107-4 (- Case Report) [OPEN ACCESS]
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2013

Erdmann, J; Stark, K; Esslinger, UB; Rumpf, PM; Koesling, D; de Wit, C; Kaiser, FJ; Braunholz, D; Medack, A; Fischer, M; Zimmermann, ME; Tennstedt, S; Graf, E; Eck, S; Aherrahrou, Z; Nahrstaedt, J; Willenborg, C; Bruse, P; Brænne, I; Nöthen, MM; Hofmann, P; Braund, PS; Mergia, E; Reinhard, W; Burgdorf, C; Schreiber, S; Balmforth, AJ; Hall, AS; Bertram, L; Steinhagen-Thiessen, E; Li, SC; März, W; Reilly, M; Kathiresan, S; McPherson, R; Walter, U; CARDIoGRAM; Ott, J; Samani, NJ; Strom, TM; Meitinger, T; Hengstenberg, C; Schunkert, H Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Nature. 2013; 504(7480):432-436 Doi: 10.1038/nature12722
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Gordon, CT; Petit, F; Kroisel, PM; Jakobsen, L; Zechi-Ceide, RM; Oufadem, M; Bole-Feysot, C; Pruvost, S; Masson, C; Tores, F; Hieu, T; Nitschké, P; Lindholm, P; Pellerin, P; Guion-Almeida, ML; Kokitsu-Nakata, NM; Vendramini-Pittoli, S; Munnich, A; Lyonnet, S; Holder-Espinasse, M; Amiel, J Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet. 2013; 93(6):1118-1125 Doi: 10.1016/j.ajhg.2013.10.023 (- Case Report) [OPEN ACCESS]
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Gordon, CT; Vuillot, A; Marlin, S; Gerkes, E; Henderson, A; AlKindy, A; Holder-Espinasse, M; Park, SS; Omarjee, A; Sanchis-Borja, M; Bdira, EB; Oufadem, M; Sikkema-Raddatz, B; Stewart, A; Palmer, R; McGowan, R; Petit, F; Delobel, B; Speicher, MR; Aurora, P; Kilner, D; Pellerin, P; Simon, M; Bonnefont, JP; Tobias, ES; García-Miñaúr, S; Bitner-Glindzicz, M; Lindholm, P; Meijer, BA; Abadie, V; Denoyelle, F; Vazquez, MP; Rotky-Fast, C; Couloigner, V; Pierrot, S; Manach, Y; Breton, S; Hendriks, YM; Munnich, A; Jakobsen, L; Kroisel, P; Lin, A; Kaban, LB; Basel-Vanagaite, L; Wilson, L; Cunningham, ML; Lyonnet, S; Amiel, J Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet. 2013; 50(3):174-186 Doi: 10.1136/jmedgenet-2012-101331
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Heitzer, E; Lax, S; Lafer, I; Müller, SM; Pristauz, G; Ulz, P; Jahn, S; Högenauer, C; Petru, E; Speicher, MR; Geigl, JB Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
BMC Med Genet. 2013; 14(1):129-129 Doi: 10.1186/1471-2350-14-129 (- Case Report) [OPEN ACCESS]
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Kodaganur, SG; Tontanahal, SJ; Sarda, A; Shah, MH; Bhat, V; Kumar, A Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Clin Dysmorphol. 2013; 22(2): 54-58. Doi: 10.1097/MCD.0b013e32835f9ac0
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Lemke, JR; Lal, D; Reinthaler, EM; Steiner, I; Nothnagel, M; Alber, M; Geider, K; Laube, B; Schwake, M; Finsterwalder, K; Franke, A; Schilhabel, M; Jähn, JA; Muhle, H; Boor, R; Van Paesschen, W; Caraballo, R; Fejerman, N; Weckhuysen, S; De Jonghe, P; Larsen, J; Møller, RS; Hjalgrim, H; Addis, L; Tang, S; Hughes, E; Pal, DK; Veri, K; Vaher, U; Talvik, T; Dimova, P; Guerrero López, R; Serratosa, JM; Linnankivi, T; Lehesjoki, AE; Ruf, S; Wolff, M; Buerki, S; Wohlrab, G; Kroell, J; Datta, AN; Fiedler, B; Kurlemann, G; Kluger, G; Hahn, A; Haberlandt, DE; Kutzer, C; Sperner, J; Becker, F; Weber, YG; Feucht, M; Steinböck, H; Neophythou, B; Ronen, GM; Gruber-Sedlmayr, U; Geldner, J; Harvey, RJ; Hoffmann, P; Herms, S; Altmüller, J; Toliat, MR; Thiele, H; Nürnberg, P; Wilhelm, C; Stephani, U; Helbig, I; Lerche, H; Zimprich, F; Neubauer, BA; Biskup, S; von Spiczak, S Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nat Genet. 2013; 45(9):1067-1072 Doi: 10.1038/ng.2728
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Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; Cottenie, E; Scoto, M; Foley, AR; Hurles, M; Houlden, H; Greensmith, L; Auer-Grumbach, M; Pieber, TR; Strom, TM; Schule, R; Herrmann, DN; Sowden, JE; Acsadi, G; Menezes, MP; Clarke, NF; Züchner, S; UK10K; Muntoni, F; North, KN; Reilly, MM Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Am J Hum Genet. 2013; 92(6):965-973 Doi: 10.1016/j.ajhg.2013.04.018 [OPEN ACCESS]
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Prüller, F; Raggam, RB; Mangge, H; Truschnig-Wilders, M; Matzhold, EM; Weiss, EC; Hasiba, B; Summers, KL; Renner, W; Siegert, G; Kostka, H A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation.
Br J Haematol. 2013; 163(3):414-417 Doi: 10.1111/bjh.12506 [OPEN ACCESS]
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Salzer, E; Daschkey, S; Choo, S; Gombert, M; Santos-Valente, E; Ginzel, S; Schwendinger, M; Haas, OA; Fritsch, G; Pickl, WF; Förster-Waldl, E; Borkhardt, A; Boztug, K; Bienemann, K; Seidel, MG Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Haematologica. 2013; 98(3):473-478 Doi: 10.3324/haematol.2012.068791 [OPEN ACCESS]
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Salzer, E; Santos-Valente, E; Klaver, S; Ban, SA; Emminger, W; Prengemann, NK; Garncarz, W; Müllauer, L; Kain, R; Boztug, H; Heitger, A; Arbeiter, K; Eitelberger, F; Seidel, MG; Holter, W; Pollak, A; Pickl, WF; Förster-Waldl, E; Boztug, K B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
Blood. 2013; 121(16):3112-3116 Doi: 10.1182/blood-2012-10-460741 [OPEN ACCESS]
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2012

Beetz, C; Pieber, TR; Hertel, N; Schabhüttl, M; Fischer, C; Trajanoski, S; Graf, E; Keiner, S; Kurth, I; Wieland, T; Varga, RE; Timmerman, V; Reilly, MM; Strom, TM; Auer-Grumbach, M Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V.
Am J Hum Genet. 2012; 91(1):139-145 Doi: 10.1016/j.ajhg.2012.05.007 [OPEN ACCESS]
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Fiorillo, C; Moro, F; Brisca, G; Astrea, G; Nesti, C; Balint, Z; Olschewski, A; Meschini, MC; Guelly, C; Auer-Grumbach, M; Battini, R; Pedemonte, M; Romano, A; Menchise, V; Biancheri, R; Santorelli, FM; Bruno, C TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Neurogenetics. 2012; 13(3):195-203 Doi: 10.1007/s10048-012-0328-7 (- Case Report)
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Hofer, H; Willheim-Polli, C; Knoflach, P; Gabriel, C; Vogel, W; Trauner, M; Müller, T; Ferenci, P Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
J Hum Genet. 2012; 57(9): 564-567. Doi: 10.1038/jhg.2012.65 [OPEN ACCESS]
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Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863 Doi: 10.1016/j.ajhg.2012.03.023 [OPEN ACCESS]
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Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, H; Quinlivan, R; Straub, V; Manzur, AY; Roper, H; Jeannet, PY; Rakowicz, W; Jones, DH; Jensen, UB; Wraige, E; Trump, N; Schara, U; Lochmuller, H; Sarkozy, A; Kingston, H; Norwood, F; Damian, M; Kirschner, J; Longman, C; Roberts, M; Auer-Grumbach, M; Hughes, I; Bushby, K; Sewry, C; Robb, S; Abbs, S; Jungbluth, H; Muntoni, F Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
HUM MUTAT. 2012; 33(6): 981-988. Doi: 10.1002/humu.22056
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Leonardis, L; Auer-Grumbach, M; Papić, L; Zidar, J The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
Eur J Neurol. 2012; 19(7):992-998 Doi: 10.1111/j.1468-1331.2012.03665.x
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Meyer, WK; Arbeithuber, B; Ober, C; Ebner, T; Tiemann-Boege, I; Hudson, RR; Przeworski, M Evaluating the evidence for transmission distortion in human pedigrees.
Genetics. 2012; 191(1): 215-232. Doi: 10.1534/genetics.112.139576 [OPEN ACCESS]
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Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet. 2012; 49(7):422-428 Doi: 10.1136/jmedgenet-2011-100674
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Schwetz, V; Uhrig, S; Spuller, E; Deutschmann, A; Högenauer, C Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
Eur J Gastroenterol Hepatol. 2012; 24(8):988-994 Doi: 10.1097/MEG.0b013e328354f43e
Web of Science PubMed FullText FullText_MUG

 

Seidel, MG; Rami, B; Item, C; Schober, E; Zeitlhofer, P; Huber, WD; Heitger, A; Bodamer, OA; Haas, OA Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.
Eur J Endocrinol. 2012; 167(1):131-134 Doi: 10.1530/EJE-12-0197 (- Case Report) [OPEN ACCESS]
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Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389 Doi: 10.1055/s-0032-1323836 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Wiesner, T; Fried, I; Ulz, P; Stacher, E; Popper, H; Murali, R; Kutzner, H; Lax, S; Smolle-Jüttner, F; Geigl, JB; Speicher, MR Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations.
J Clin Oncol. 2012; 30(32):e337-e340 Doi: 10.1200/JCO.2011.41.2965 (- Case Report) [OPEN ACCESS]
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2011

Pfarr, N; Szamalek-Hoegel, J; Fischer, C; Hinderhofer, K; Nagel, C; Ehlken, N; Tiede, H; Olschewski, H; Reichenberger, F; Ghofrani, AH; Seeger, W; Grünig, E Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Respir Res. 2011; 12(12):99-99 Doi: 10.1186/1465-9921-12-99 [OPEN ACCESS]
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