Journal of Medical Genetics: 42 (4)

Electronic letters

Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys
(1 April, 2005) Free
I M Heid, C Vollmert, A Hinney, A Döring, F Geller, H Löwel, H-E Wichmann, T Illig, J Hebebrand, F Kronenberg

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer
(1 April, 2005) Free
P Vahteristo, S Ojala, A Tamminen, J Tommiska, H Sammalkorpi, S Kiuru-Kuhlefelt, H Eerola, L A Aaltonen, K Aittomäki, H Nevanlinna
High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent (1 April, 2005) Free
S W Fouchier, R R Sankatsing, J Peter, S Castillo, M Pocovi, R Alonso, J J P Kastelein, J C Defesche

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
(1 April, 2005) Free
K W Kjaer, L Hansen, G C Schwabe, A P Marques-de-Faria, H Eiberg, S Mundlos, N Tommerup, T Rosenberg
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
(1 April, 2005) Free
T Kleefstra, M Smidt, M J G Banning, A R Oudakker, H Van Esch, A P M de Brouwer, W Nillesen, E A Sistermans, B C J Hamel, D de Bruijn, J-P Fryns, H G Yntema, H G Brunner, B B A de Vries, H van Bokhoven
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (1 April, 2005) Free
K Tatton-Brown, J Douglas, K Coleman, G Baujat, K Chandler, A Clarke, A Collins, S Davies, F Faravelli, H Firth, C Garrett, H Hughes, B Kerr, J Liebelt, W Reardon, G B Schaefer, M Splitt, I K Temple, D Waggoner, D D Weaver, L Wilson, T Cole, V Cormier-Daire, A Irrthum, N Rahman

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies
(1 April, 2005) Free
O Demirhan, S Türkmen, G C Schwabe, S Soyupak, E Akgül, D Taştemir, D Karahan, S Mundlos, K Lehmann
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
(1 April, 2005) Free
M G Butler, M J Dasouki, X-P Zhou, Z Talebizadeh, M Brown, T N Takahashi, J H Miles, C H Wang, R Stratton, R Pilarski, C Eng

Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at −1249
(1 April, 2005) Free
R M Fernandez, G Boru, A Peciña, K Jones, M López-Alonso, G Antiñolo, S Borrego, C Eng
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly (1 April, 2005) Free
S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, J R Lupski
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
(1 April, 2005) Free
A M Sharp, L M Messiaen, G Page, C Antignac, M-C Gubler, L F Onuchic, S Somlo, G G Germino, L M Guay-Woodford
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
(1 April, 2005) Free
L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect (1 April, 2005) Free
R Claramunt, L Pedrola, T Sevilla, A López de Munain, J Berciano, A Cuesta, B Sánchez-Navarro, J M Millán, G M Saifi, J R Lupski, J J Vílchez, C Espinós, F Palau
Inadvertent diagnosis of male infertility through genealogical DNA testing (1 April, 2005) Free
T E King, E Bosch, S M Adams, E J Parkin, Z H Rosser, M A Jobling