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Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit, G. and Sheffer, R. and Daana, M. and Li, Y. and Kaygusuz, E. and Mor-Shakad, H. and Altmüller, J. and Nürnberg, P. and Douiev, L. and Kaulfuss, S. and Burfeind, P. and Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 59 (6): 549-553. 20 May 2022

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J. and Harter, P. and Ernst, C. and Burges, A. and Schmidt, S. and Reuss, A. and Borde, J. and De Gregorio, N. and Dietrich, D. and El-Balat, A. and Kayali, M. and Gevensleben, H. and Hilpert, F. and Altmüller, J. and Heimbach, A. and Meier, W. and Schoemig-Markiefka, B. and Thiele, H. and Kimmig, R. and Nürnberg, P. and Kast, K. and Richters, L. and Sehouli, J. and Schmutzler, R.K. and Hahnen, E.
Journal of Medical Genetics 59 (3): 248-252. March 2022

Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
Hauke, J. and Hahnen, E. and Schneider, S. and Reuss, A. and Richters, L. and Kommoss, S. and Heimbach, A. and Marmé, F. and Schmidt, S. and Prieske, K. and Gevensleben, H. and Burges, A. and Borde, J. and De Gregorio, N. and Nürnberg, P. and El-Balat, A. and Thiele, H. and Hilpert, F. and Altmüller, J. and Meier, W. and Dietrich, D. and Kimmig, R. and Schoemig-Markiefka, B. and Kast, K. and Braicu, E. and Baumann, K. and Jackisch, C. and Park-Simon, T.W. and Ernst, C. and Hanker, L. and Pfisterer, J. and Schnelzer, A. and du Bois, A. and Schmutzler, R.K. and Harter, P.
Journal of Medical Genetics 56 (9): 574-580. September 2019

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Pauli, S. and Altmüller, J. and Schröder, S. and Ohlenbusch, A. and Dreha-Kulaczewski, S. and Bergmann, C. and Nürnberg, P. and Thiele, H. and Li, Y. and Wollnik, B. and Brockmann, K.
Journal of Medical Genetics 56 (4): 261-264. April 2019

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, S. and Li, Y. and Agolini, E. and Bellacchio, E. and Arboleda-Bustos, C.E. and Carrero, D. and Bertola, D. and Al-Gazali, L. and Alders, M. and Altmüller, J. and Arboleda, G. and Beleggia, F. and Bruselles, A. and Ciolfi, A. and Gillessen-Kaesbach, G. and Krieg, T. and Mohammed, S. and Müller, C. and Novelli, A. and Ortega, J. and Sandoval, A. and Velasco, G. and Yigit, G. and Arboleda, H. and Lopez-Otin, C. and Wollnik, B. and Tartaglia, M. and Hennekam, R.C.
Journal of Medical Genetics 55 (12): 837-846. December 2018

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
Broekaert, I.J. and Becker, K. and Gottschalk, I. and Körber, F. and Dötsch, J. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Hünseler, C. and Cirak, S.
Journal of Medical Genetics 55 (9): 637-640. September 2018

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
Spielmann, M. and Hernandez-Miranda, L.R. and Ceccherini, I. and Weese-Mayer, D.E. and Kragesteen, B.K. and Harabula, I. and Krawitz, P. and Birchmeier, C. and Leonard, N. and Mundlos, S.
Journal of Medical Genetics 54 (11): 754-761. November 2017

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato, N. and Neuhann, T. and Kahlert, A.K. and Klink, B. and Hackmann, K. and Neuhann, I. and Novotna, B. and Schallner, J. and Krause, C. and Glass, I.A. and Parnell, S.E. and Benet-Pages, A. and Nissen, A.M. and Berger, W. and Altmüller, J. and Thiele, H. and Weber, B.H.F. and Schrock, E. and Dobyns, W.B. and Bier, A. and Rump, A.
Journal of Medical Genetics 53 (6): 419-425. June 2016

Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes, F. and Barbosa, M. and Ameur, A. and Soares, G. and de Sá, J. and Dias, A.I. and Oliveira, G. and Cabral, P. and Temudo, T. and Calado, E. and Cruz, I.F. and Vieira, J.P. and Oliveira, R. and Esteves, S. and Sauer, S. and Jonasson, I. and Syvänen, A.C. and Gyllensten, U. and Pinto, D. and Maciel, P.
Journal of Medical Genetics 53 (3): 190-199. March 2016

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill, C.M. and Liu, T. and Schjeide, B.M. and Roehr, J.T. and Akkad, D.A. and Damotte, V. and Alcina, A. and Ortiz, M.A. and Arroyo, R. and Lopez de Lapuente, A. and Blaschke, P. and Winkelmann, A. and Gerdes, L.A. and Luessi, F. and Fernadez, O. and Izquierdo, G. and Antiguedad, A. and Hoffjan, S. and Cournu-Rebeix, I. and Gromoeller, S. and Faber, H. and Liebsch, M. and Meissner, E. and Chanvillard, C. and Touze, E. and Pico, F. and Corcia, P. and Doerner, T. and Steinhagen-Thiessen, E. and Baeckman, L. and Heekeren, H.R. and Li, S.C. and Lindenberger, U. and Chan, A. and Hartung, H.P. and Aktas, O. and Lohse, P. and Kuempfel, T. and Kubisch, C. and Epplen, J.T. and Zettl, U.K. and Fontaine, B. and Vandenbroeck, K. and Matesanz, F. and Urcelay, E. and Bertram, L. and Zipp, F.
Journal of Medical Genetics 49 (9): 558-562. September 2012

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
Fokstuen, S. and Munoz, A. and Melacini, P. and Iliceto, S. and Perrot, A. and Ozcelik, C. and Jeanrenaud, X. and Rieubland, C. and Farr, M. and Faber, L. and Sigwart, U. and Mach, F. and Lerch, R. and Antonarakis, S.E. and Blouin, J.L.
Journal of Medical Genetics 48 (8): 572-576. August 2011

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch, M.G. and Gramlich, M. and Sunde, M. and Schmitt, K.R. and Lee, S.H.Y. and Richter, S. and Kersten, A. and Perrot, A. and Panek, A.N. and Al Khatib, I. and Nemer, G. and Megarbane, A. and Dietz, R. and Stiller, B. and Berger, F. and Harvey, R.P. and Oezcelik, C.
Journal of Medical Genetics 47 (4): 230-235. April 2010

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Erdogan, F. and Larsen, L.A. and Zhang, L. and Tuemer, Z. and Tommerup, N. and Chen, W. and Jacobsen, J.R. and Schubert, M. and Jurkatis, J. and Tzschach, A. and Ropers, H.H. and Ullmann, R.
Journal of Medical Genetics 45 (11): 704-709. November 2008

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer, J. and Dreweke, A. and Becker, C. and Goehring, I. and Thiel, C.T. and Peippo, M.M. and Rauch, R. and Hofbeck, M. and Trautmann, U. and Zweier, C. and Zenker, M. and Hueffmeier, U. and Kraus, C. and Ekici, A.B. and Rueschendorf, F. and Nuernberg, P. and Reis, A. and Rauch, A.
Journal of Medical Genetics 44 (10): 629-636. October 2007

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert, W. and Holder-Espinasse, M. and Spranger, S. and Hoeltzenbein, M. and Rossier, E. and Dollfus, H. and Lacombe, D. and Verloes, A. and Chrzanowska, K.H. and Maegawa, G.H. and Chitayat, D. and Kotzot, D. and Huhle, D. and Meinecke, P. and Albrecht, B. and Mathijssen, I. and Leheup, B. and Raile, K. and Hennies, H.C. and Horn, D.
Journal of Medical Genetics 43 (5): e22. May 2006

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Tukel, T. and Uzumcu, A. and Gezer, A. and Kayserili, H. and Yuksel-Apak, M. and Uyguner, O. and Gultekin, S.H. and Hennies, H.C. and Nuernberg, P. and Desnick, R.J. and Wollnik, B.
Journal of Medical Genetics 42 (5): 408-415. May 2005

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Van Den Bogaert, K. and De Leenheer, E.M.R. and Chen, W. and Lee, Y. and Nuernberg, P. and Pennings, R.J.E. and Vanderstraeten, K. and Thys, M. and Cremers, C.W.R.J. and Smith, R.J.H. and Van Camp, G.
Journal of Medical Genetics 41 (6): 450-453. June 2004

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele, H. and McCann, C. and vant Padje, S. and Schwabe, G.C. and Hennies, H.C. and Camera, G. and Opitz, J. and Laxova, R. and Mundlos, S. and Nuernberg, P.
Journal of Medical Genetics 41 (3): 213-218. March 2004

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A.M. and Rueschendorf, F. and Krause, S. and Goebel, H.H. and Koehler, K. and Becker, C. and Pongratz, D. and Mueller-Hoecker, J. and Nuernberg, P. and Stoltenburg-Didinger, G. and Lochmueller, H. and Huebner, A.
Journal of Medical Genetics 41 (11): 842-848. 1 January 2004

Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch, A. and Rueschendorf, F. and Huang, J. and Trautmann, U. and Becker, C. and Thiel, C. and Jones, K.W. and Reis, A. and Nuernberg, P.
Journal of Medical Genetics 41 (12): 916-922. 1 January 2004

Clinical and genetic characteristics of a cardiac actin gene mutations in hypertrophic cardiomyopathy.
Mogensen, J. and Perrot, A. and Andersen, P.S. and Havndrup, O. and Klausen, I.C. and Christiansen, M. and Bross, P. and Egeblad, H. and Bundgaard, H. and Osterziel, K.J. and Haltern, G. and Lapp, H. and Reinecke, P. and Gregersen, N. and Borglum, A.D.
Journal of Medical Genetics 41 : E10. January 2004

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
Ruf, R.G. and Berkman, J. and Wolf, M.T.F. and Nuernberg, P. and Gattas, M. and Ruf, E.M. and Hyland, V. and Kromberg, J. and Glass, I. and Macmillan, J. and Otto, E. and Nuernberg, G. and Lucke, B. and Hennies, H.C. and Hildebrandt, F.
Journal of Medical Genetics 40 (7): 515-519. July 2003

Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families.
Hofmann, W. and Wappenschmidt, B. and Berhane, S. and Schmutzler, R. and Scherneck, S.
Journal of Medical Genetics 39 : E36. 1 July 2002

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
Bayoumi, R. and Saar, K. and Lee, Y.A. and Nuernberg, G. and Reis, A. and Nur-E-Kamal, M. and Al Gazali, L.I.
Journal of Medical Genetics 38 (6): 369-373. 1 January 2001

Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation.
Thies, C. and Handrock, M. and Sperling, K. and Reis, A.
Journal of Medical Genetics 33 : 597-599. 1 January 1996

The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families.
Teare, M.D. and Rohde, K. and Santibanez-Koref, M.F.
Journal of Medical Genetics 31 : 448-452. 1 January 1994

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Koch, M.C. and Ricker, K. and Otto, M. and Wolf, F. and Zoll, B. and Lorenz, C. and Steinmeyer, K. and Jentsch, T.J.
Journal of Medical Genetics 30 (11): 914-917. November 1993

Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMB family.
Lenk, U. and Demuth, S. and Kraeft, U. and Hanke, R. and Speer, A.
Journal of Medical Genetics 30 : 206-209. 1 January 1993

Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.
Lenk, U. and Hanke, R. and Kraeft, U. and Grade, K. and Grunewald, I. and Speer, A.
Journal of Medical Genetics 30 : 951-954. 1 January 1993

On the genetics of mandibular prognathism: analysis of large European noble families.
Wolff, G. and Wienker, T.F. and Sander, H.
Journal of Medical Genetics 30 : 112-116. 1 January 1993

Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).
Wolff, G. and Mayerova, A. and Wienker, T.F. and Atalianis, P. and Ioannou, P. and Warburg, M.
Journal of Medical Genetics 29 : 816-819. 1 January 1992

Letter

We need a detailed phenome in the phenomenon of genetics and congenital heart disease.
Posch, M.G. and Berger, F. and Perrot, A. and Oezcelik, C.
Journal of Medical Genetics 45 (5): 320. May 2008

The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene.
Hofmann, W. and Horn, D. and Huettner, C. and Classen, E. and Scherneck, S.
Journal of Medical Genetics 40 : e23. 1 March 2003

Limited contribution of interchromosomal gene conversion to NF1 gene mutation.
Luijten, M. and Fahsold, R. and Mischung, C. and Westerveld, A. and Nuernberg, P. and Hulsebos, T.J.
Journal of Medical Genetics 38 (7): 481-485. July 2001

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
Horn, D. and Rupprecht, E. and Kunze, J. and Spranger, J.
Journal of Medical Genetics 38 : 262-265. 1 January 2001

A novel mutation and novel features in Nijmegen breakage syndrome.
Maraschio, P. and Danesino, C. and Antoccia, A. and Ricordy, R. and Tanzarella, C. and Varon, R. and Reis, A. and Besana, D. and Guala, A. and Tiepolo, L.
Journal of Medical Genetics 38 : 113-117. 1 January 2001

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes.
Toennies, H. and Schulze, I. and Hennies, H.C. and Neumann, L.M. and Keitzer, R. and Neitzel, H.
Journal of Medical Genetics 38 : 617-621. 1 January 2001

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.
Vanita, V.S. and Sarhadi, V. and Reis, A. and Jung, M. and Singh, D. and Sperling, K. and Singh, J.R. and Buerger, J.
Journal of Medical Genetics 38 : 392-396. 1 January 2001