Genetic screening / counselling

Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos
Ruizhi Feng, Zheng Yan, Bin Li, Min Yu, Qing Sang, Guoling Tian, Yao Xu, Biaobang Chen, Ronggui Qu, Zhaogui Sun, Xiaoxi Sun, Li Jin, Lin He, Yanping Kuang, Nicholas J Cowan, Lei Wang

Journal of Medical Genetics Oct 2016, 53 (10) 662-671; DOI: 10.1136/jmedgenet-2016-103891
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data
Samer Khateb, Mor Hanany, Ayat Khalaileh, Avigail Beryozkin, Segev Meyer, Alaa Abu-Diab, Fathieh Abu Turky, Liliana Mizrahi-Meissonnier, Sari Lieberman, Tamar Ben-Yosef, Eyal Banin, Dror Sharon

Journal of Medical Genetics Sep 2016, 53 (9) 600-607; DOI: 10.1136/jmedgenet-2016-103825
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor

Journal of Medical Genetics Sep 2016, 53 (9) 634-641; DOI: 10.1136/jmedgenet-2015-103576
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, Jenny Morton, Katrien Smets, Tjitske Kleefstra, Sonja A de Munnik, Janneke Schuurs-Hoeijmakers, Berten Ceulemans, Marcella Zollino, Sabine Hoffjan, Stefan Wieczorek, Joyce So, Leanne Mercer, Tanya Walker, Lea Velsher, the DDD study, Michael J Parker, Alex C Magee, Bart Elffers, R Frank Kooy, Helger G Yntema, Elizabeth J Meijers-Heijboer, Erik A Sistermans

Journal of Medical Genetics Aug 2016, 53 (8) 523-532; DOI: 10.1136/jmedgenet-2015-103601
Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes
Sumedha Sudhaman, Uday B Muthane, Madhuri Behari, Shyla T Govindappa, Ramesh C Juyal, B K Thelma

Journal of Medical Genetics Aug 2016, 53 (8) 559-566; DOI: 10.1136/jmedgenet-2015-103616
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
Aritoshi Iida, Weirong Xing, Martine K F Docx, Tomoki Nakashima, Zheng Wang, Mamori Kimizuka, Wim Van Hul, Dietz Rating, Jürgen Spranger, Hirohumi Ohashi, Noriko Miyake, Naomichi Matsumoto, Subburaman Mohan, Gen Nishimura, Geert Mortier, Shiro Ikegawa

Journal of Medical Genetics Aug 2016, 53 (8) 568-574; DOI: 10.1136/jmedgenet-2016-103756
Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism
Sumedha Sudhaman, Kameshwar Prasad, Madhuri Behari, Uday B Muthane, Ramesh C Juyal, BK Thelma

Journal of Medical Genetics Jul 2016, 53 (7) 450-456; DOI: 10.1136/jmedgenet-2015-103459
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
Aideen M McInerney-Leo, Carine Le Goff, Paul J Leo, Tony J Kenna, Patricia Keith, Jessica E Harris, Ruth Steer, Christine Bole-Feysot, Patrick Nitschke, Cay Kielty, Matthew A Brown, Andreas Zankl, Emma L Duncan, Valerie Cormier-Daire

Journal of Medical Genetics Jul 2016, 53 (7) 457-464; DOI: 10.1136/jmedgenet-2015-103647
Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour
Timothy Blake Palculict, E Cristy Ruteshouser, Yu Fan, Wenyi Wang, Louise Strong, Vicki Huff

Journal of Medical Genetics Jun 2016, 53 (6) 385-388; DOI: 10.1136/jmedgenet-2015-103311
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D Webb, Justin Snider, Anastasia Fedick, Elisheva Kleinman, Nathan R Treff, Cungui Mao, Orly Elpeleg

Journal of Medical Genetics Jun 2016, 53 (6) 389-396; DOI: 10.1136/jmedgenet-2015-103457

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