Reproductive medicine

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, F Novara, A Vetro, E Rossi, P Maraschio, M C Bonaglia, C Anichini, G B Ferrero, M Silengo, E Fazzi, A Zatterale, R Fischetto, C Previderé, S Belli, A Turci, G Calabrese, F Bernardi, E Meneghelli, M Riegel, M Rocchi, S Guerneri, F Lalatta, L Zelante, C Romano, M Fichera, T Mattina, G Arrigo, M Zollino, S Giglio, F Lonardo, A Bonfante, A Ferlini, F Cifuentes, H Van Esch, L Backx, A Schinzel, J R Vermeesch, O Zuffardi

Journal of Medical Genetics Dec 2007, 44 (12) 750-762; DOI: 10.1136/jmg.2007.052787
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
Alistair T Pagnamenta, Hameed Khan, Susan Walker, Dianne Gerrelli, Kirsty Wing, Maria Clara Bonaglia, Roberto Giorda, Tom Berney, Elisa Mani, Massimo Molteni, Dalila Pinto, Ann Le Couteur, Joachim Hallmayer, James S Sutcliffe, Peter Szatmari, Andrew D Paterson, Stephen W Scherer, Veronica J Vieland, Anthony P Monaco

Journal of Medical Genetics Jan 2011, 48 (1) 48-54; DOI: 10.1136/jmg.2010.079426
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow

Journal of Medical Genetics Sep 2014, 51 (9) 587-589; DOI: 10.1136/jmedgenet-2014-102444
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
Kimberly A Aldinger, Nancy J Mendelsohn, Brian HY Chung, Wenjuan Zhang, Daniel H Cohn, Bridget Fernandez, Fowzan S Alkuraya, William B Dobyns, Cynthia J Curry

Journal of Medical Genetics Jun 2016, 53 (6) 427-430; DOI: 10.1136/jmedgenet-2015-103476
SHOX haploinsufficiency and overdosage: impact of gonadal function status
Tsutomu Ogata, Nobutake Matsuo, Gen Nishimura

Journal of Medical Genetics Jan 2001, 38 (1) 1-6; DOI: 10.1136/jmg.38.1.1
BRCA1 functions as a breast stem cell regulator
W D Foulkes

Journal of Medical Genetics Jan 2004, 41 (1) 1-5; DOI: 10.1136/jmg.2003.013805
The allelic modulation of apolipoprotein E expression by oestrogen: potential relevance for Alzheimer’s disease
J-C Lambert, N Coyle, C Lendon

Journal of Medical Genetics Feb 2004, 41 (2) 104-112; DOI: 10.1136/jmg.2003.005033
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
Majlinda Lako, Simon Ramsden, R Duncan Campbell, Tom Strachan

Journal of Medical Genetics Feb 1999, 36 (2) 119-124; DOI: 10.1136/jmg.36.2.119
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Eva Klopocki, Silke Lohan, Sandra C Doelken, Sigmar Stricker, Charlotte W Ockeloen, Renata Soares Thiele de Aguiar, Karina Lezirovitz, Regina Celia Mingroni Netto, Aleksander Jamsheer, Hitesh Shah, Ingo Kurth, Rolf Habenicht, Matthew Warman, Koenraad Devriendt, Ulrike Kordaß, Maja Hempel, Anna Rajab, Outi Mäkitie, Mohammed Naveed, Uppala Radhakrishna, Stylianos E Antonarakis, Denise Horn, Stefan Mundlos

Journal of Medical Genetics Feb 2012, 49 (2) 119-125; DOI: 10.1136/jmedgenet-2011-100409
Independent NF1 mutations in two large families with spinal neurofibromatosis
L Messiaen, V Riccardi, J Peltonen, O Maertens, T Callens, S L Karvonen, E-L Leisti, J Koivunen, I Vandenbroucke, K Stephens, M Pöyhönen

Journal of Medical Genetics Feb 2003, 40 (2) 122-126; DOI: 10.1136/jmg.40.2.122

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