Reproductive medicine

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, G M Casiraghi, M R Cilio, R Hennekam, R Hofstra, J G Schöber, R Ravazzolo, G Ottonello, I Ceccherini

Journal of Medical Genetics May 2004, 41 (5) 373-380; DOI: 10.1136/jmg.2003.015412
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis
R Willemsen, A Smits, L-A Severijnen, M Jansen, A Jacobs, E De Bruyn, B Oostra

Journal of Medical Genetics May 2003, 40 (5) 377-379; DOI: 10.1136/jmg.40.5.377
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection
S Steinberg, S Katsanis, A Moser, G Cutting

Journal of Medical Genetics Jan 2005, 42 (1) 38-44; DOI: 10.1136/jmg.2004.023556
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, T Attié-Bitach

Journal of Medical Genetics May 2004, 41 (5) 381-386; DOI: 10.1136/jmg.2003.014829
An SNP in protamine 1: a possible genetic cause of male infertility?
N Iguchi, S Yang, D J Lamb, N B Hecht

Journal of Medical Genetics Apr 2006, 43 (4) 382-384; DOI: 10.1136/jmg.2005.037168
International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age
Andrew D Carothers, Christina A Hecht, Ernest B Hook

Journal of Medical Genetics May 1999, 36 (5) 386-393; DOI: 10.1136/jmg.36.5.386
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
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
T Kleefstra, H G Yntema, A R Oudakker, M J G Banning, V M Kalscheuer, J Chelly, C Moraine, H-H Ropers, J-P Fryns, I M Janssen, E A Sistermans, W N Nillesen, L B A de Vries, B C J Hamel, H van Bokhoven

Journal of Medical Genetics May 2004, 41 (5) 394-399; DOI: 10.1136/jmg.2003.016972
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups
Douglas Londono, Ikuyo Kou, Todd A Johnson, Swarkar Sharma, Yoji Ogura, Tatsuhiko Tsunoda, Atsushi Takahashi, Morio Matsumoto, John A Herring, Tsz-Ping Lam, Xingyan Wang, Elisa M S Tam, You-Qiang Song, Yan-Hui Fan, Danny Chan, Kathryn S E Cheah, Xusheng Qiu, Hua Jiang, Dongsheng Huang, Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, the International Consortium for Scoliosis Genetics, Peiqiang Su, Pak Sham, Kenneth M C Cheung, Keith D K Luk, Derek Gordon, Yong Qiu, Jack Cheng, Nelson Tang, Shiro Ikegawa, Carol A Wise

Journal of Medical Genetics Jun 2014, 51 (6) 401-406; DOI: 10.1136/jmedgenet-2013-102067
Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis
Samantha J L Knight, Jonathan Flint

Journal of Medical Genetics Jun 2000, 37 (6) 401-409; DOI: 10.1136/jmg.37.6.401

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