Dermatology

Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region
M G Butler, D Bittel, Z Talebizadeh

Journal of Medical Genetics Mar 2002, 39 (3) 202-204; DOI: 10.1136/jmg.39.3.202
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany
U Hamann, X Liu, S Lange, H U Ulmer, A Benner, R J Scott

Journal of Medical Genetics Mar 2002, 39 (3) e12; DOI: 10.1136/jmg.39.3.e12
Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a “Sotos-like” syndrome?
J Amiel, L Faivre, L Wilson, M Le Merrer, A Munnich, R Winter, S Lyonnet, V Cormier-Daire

Journal of Medical Genetics Feb 2002, 39 (2) 148-152; DOI: 10.1136/jmg.39.2.148
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome
J R Toro, Y O Shevchenko, J G Compton, S J Bale

Journal of Medical Genetics Feb 2002, 39 (2) e10; DOI: 10.1136/jmg.39.2.e10
A case of Costello syndrome and glycogen storage disease type III
M Kaji, K Kurokawa, T Hasegawa, K Oguro, A Saito, T Fukuda, M Ito, H Sugie

Journal of Medical Genetics Feb 2002, 39 (2) e8; DOI: 10.1136/jmg.39.2.e8
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
W Courtens, A-B Johansson, B Dachy, F Avni, N Telerman-Toppet, H Scheffer

Journal of Medical Genetics Jan 2002, 39 (1) 74-77; DOI: 10.1136/jmg.39.1.74
A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
William Reardon, Xiao-Ping Zhou, Charis Eng

Journal of Medical Genetics Dec 2001, 38 (12) 820-823; DOI: 10.1136/jmg.38.12.820
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
A C Lossie, M M Whitney, D Amidon, H J Dong, P Chen, D Theriaque, A Hutson, R D Nicholls, R T Zori, C A Williams, D J Driscoll

Journal of Medical Genetics Dec 2001, 38 (12) 834-845; DOI: 10.1136/jmg.38.12.834
Ectodermal dysplasias: a new clinical-genetic classification
Manuela Priolo, Carmelo Laganà

Journal of Medical Genetics Sep 2001, 38 (9) 579-585; DOI: 10.1136/jmg.38.9.579
Screening families with endometrial and colorectal cancers for germline mutations
Tao Liu, Jindong Chen, Sima Salahshor, Shannon Kuismanen, Eva Holmberg, Henrik Grönberg, Päivi Peltomäki, Annika Lindblom

Journal of Medical Genetics Sep 2001, 38 (9) e29; DOI: 10.1136/jmg.38.9.e29

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