Reproductive medicine

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Ranad Shaheen, Amal Al Hashem, Mohammed H Alghamdi, Mohammed Zain Seidahmad, Salma M Wakil, Khalid Dagriri, Bernard Keavney, Judith Goodship, Saad Alyousif, Fahad M Al-Habshan, Khalid Alhussein, Agaadir Almoisheer, Niema Ibrahim, Fowzan S Alkuraya

Journal of Medical Genetics May 2015, 52 (5) 322-329; DOI: 10.1136/jmedgenet-2015-102992
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, J R Lupski

Journal of Medical Genetics Apr 2005, 42 (4) 328-335; DOI: 10.1136/jmg.2004.028258
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements
Anna Soler, Ester Margarit, Ana Carrió, Dolors Costa, Rosa Queralt, Francisca Ballesta

Journal of Medical Genetics Apr 1999, 36 (4) 333-334; DOI: 10.1136/jmg.36.4.333
Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated
J Carayol, M Khlat, J Maccario, C Bonaïti-Pellié

Journal of Medical Genetics May 2002, 39 (5) 335-339; DOI: 10.1136/jmg.39.5.335
Germline mutation in DOK7 associated with fetal akinesia deformation sequence
J Vogt, N V Morgan, T Marton, S Maxwell, B J Harrison, D Beeson, E R Maher

Journal of Medical Genetics May 2009, 46 (5) 338-340; DOI: 10.1136/jmg.2008.065425
Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families
M Guttenbach, T Haaf, C Steinlein, J Caesar, A Schinzel, M Schmid

Journal of Medical Genetics Apr 1999, 36 (4) 339-342; DOI: 10.1136/jmg.36.4.339
Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility
D Lo Giacco, C Chianese, E Ars, E Ruiz-Castañé, G Forti, C Krausz

Journal of Medical Genetics May 2014, 51 (5) 340-344; DOI: 10.1136/jmedgenet-2013-101988
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
D Castermans, V Wilquet, E Parthoens, C Huysmans, J Steyaert, L Swinnen, J-P Fryns, W Van de Ven, K Devriendt

Journal of Medical Genetics May 2003, 40 (5) 352-356; DOI: 10.1136/jmg.40.5.352
Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts
S T Santhiya, M Shyam Manohar, D Rawlley, P Vijayalakshmi, P Namperumalsamy, P M Gopinath, J Löster, J Graw

Journal of Medical Genetics May 2002, 39 (5) 352-358; DOI: 10.1136/jmg.39.5.352
Prenatal detection of unbalanced chromosomal rearrangements by array CGH
L Rickman, H Fiegler, C Shaw-Smith, R Nash, V Cirigliano, G Voglino, B L Ng, C Scott, J Whittaker, M Adinolfi, N P Carter, M Bobrow

Journal of Medical Genetics Apr 2006, 43 (4) 353-361; DOI: 10.1136/jmg.2005.037648

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