Chromosomal

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
Sabrina Talukdar, Lara Hawkes, Helen Hanson, Anjana Kulkarni, Angela F Brady, Dominic J McMullan, Joo Wook Ahn, Emma Woodward, Clare Turnbull

Journal of Medical Genetics Nov 2019, 56 (11) 718-726; DOI: 10.1136/jmedgenet-2018-105820
CTNND2—a candidate gene for reading problems and mild intellectual disability
Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand

Journal of Medical Genetics Feb 2015, 52 (2) 111-122; DOI: 10.1136/jmedgenet-2014-102757
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder
Christian Babbs, Deborah Lloyd, Alistair T Pagnamenta, Stephen R F Twigg, Joanne Green, Simon J McGowan, Ghazala Mirza, Rebecca Naples, Vikram P Sharma, Emanuela V Volpi, Veronica J Buckle, Steven A Wall, Samantha J L Knight, International Molecular Genetic Study of Autism Consortium (IMGSAC), Jeremy R Parr, Andrew O M Wilkie

Journal of Medical Genetics Nov 2014, 51 (11) 737-747; DOI: 10.1136/jmedgenet-2014-102582
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
Carolyn Bondy, Vladimir K Bakalov, Clara Cheng, Laura Olivieri, Douglas R Rosing, Andrew E Arai

Journal of Medical Genetics Oct 2013, 50 (10) 662-665; DOI: 10.1136/jmedgenet-2013-101720
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
Hana Lango Allen, Richard Caswell, Weijia Xie, Xiao Xu, Christopher Wragg, Peter D Turnpenny, Claire L S Turner, Michael N Weedon, Sian Ellard

Journal of Medical Genetics Apr 2014, 51 (4) 264-267; DOI: 10.1136/jmedgenet-2013-102142
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
Yardena Tenenbaum-Rakover, Ariella Weinberg-Shukron, Paul Renbaum, Orit Lobel, Hasan Eideh, Suleyman Gulsuner, Dvir Dahary, Amal Abu-Rayyan, Moien Kanaan, Ephrat Levy-Lahad, Dani Bercovich, David Zangen

Journal of Medical Genetics Jun 2015, 52 (6) 391-399; DOI: 10.1136/jmedgenet-2014-102921
Pallister-Killian syndrome: a study of 22 British patients
Moira Blyth, Viv Maloney, Sarah Beal, Morag Collinson, Shuwen Huang, John Crolla, I Karen Temple, Diana Baralle

Journal of Medical Genetics Jul 2015, 52 (7) 454-464; DOI: 10.1136/jmedgenet-2014-102877
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza, Orsetta Zuffardi, Saverio Francesco Retta, Giovanni Stevanin, Cecilia Marelli, Alexandra Durr, Sylvie Forlani, Jamel Chelly, Francesca Montarolo, Filippo Tempia, Hilary E Beggs, Robin Reed, Stefania Squadrone, Maria C Abete, Alessandro Brussino, Natascia Ventura, Ferdinando Di Cunto, Alfredo Brusco

Journal of Medical Genetics Aug 2013, 50 (8) 543-551; DOI: 10.1136/jmedgenet-2013-101542
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes
Malene B Rasmussen, Jakob V Nielsen, Charles M Lourenço, Joana B Melo, Christina Halgren, Camila V L Geraldi, Wilson Marques, Guilherme R Rodrigues, Mads Thomassen, Mads Bak, Claus Hansen, Susana I Ferreira, Margarida Venâncio, Karen F Henriksen, Allan Lind-Thomsen, Isabel M Carreira, Niels A Jensen, Niels Tommerup

Journal of Medical Genetics Sep 2014, 51 (9) 605-613; DOI: 10.1136/jmedgenet-2014-102535
A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm
Tiia M Luukkonen, Minna Pöyhönen, Aarno Palotie, Pekka Ellonen, Sonja Lagström, Joseph H Lee, Joseph D Terwilliger, Riitta Salonen, Teppo Varilo

Journal of Medical Genetics Oct 2012, 49 (10) 621-629; DOI: 10.1136/jmedgenet-2012-100977

Main menu

Chromosomal

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Chromosomal

Pages