Diagnostics

Rett syndrome and the MECP2 gene
Tessa Webb, Farida Latif

Journal of Medical Genetics Apr 2001, 38 (4) 217-223; DOI: 10.1136/jmg.38.4.217
Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein
Pamela Watson, Graeme Black, Simon Ramsden, Margaret Barrow, Maurice Super, Bronwyn Kerr, Jill Clayton-Smith

Journal of Medical Genetics Apr 2001, 38 (4) 224-228; DOI: 10.1136/jmg.38.4.224
A new case of exomphalos, short limbs, and macrogonadism syndrome
G VIOT, E PANNIER, L FAIVRE, J TANTAU, C FALLET-BIANCO, J M DUPONT, P JOUANNET, M C AUBRY, S LYONNET, D CABROL

Journal of Medical Genetics Mar 2001, 38 (3) e8; DOI: 10.1136/jmg.38.3.e8
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association
ROBERTA CINTI, MANUELA PRIOLO, MARGHERITA LERONE, GIORGIO GIMELLI, MARCO SERI, MARGHERITA SILENGO, ROBERTO RAVAZZOLO

Journal of Medical Genetics Feb 2001, 38 (2) e6; DOI: 10.1136/jmg.38.2.e6
A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family
NICOLE MONNIER, JEAN-PIERRE GOUT, ISABELLE PIN, GENEVIÈVE GAUTHIER, JOEL LUNARDI

Journal of Medical Genetics Jan 2001, 38 (1) e4; DOI: 10.1136/jmg.38.1.e4
A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland
M POYHONEN

Journal of Medical Genetics Dec 2000, 37 (12) e43; DOI: 10.1136/jmg.37.12.e43
Recurrence risks in undiagnosed mental retardation
GILLIAN TURNER, MICHAEL PARTINGTON

Journal of Medical Genetics Dec 2000, 37 (12) e45; DOI: 10.1136/jmg.37.12.e45
CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping
DORIT LEV, ORLY NAKAR, IRIT BAR-AM, ALEXANDER ZUDIK, NATHAN WATEMBERG, SHARON FINKELSTIEN, NIRIT KATZIN, TALLY LERMAN-SAGIE

Journal of Medical Genetics Dec 2000, 37 (12) e47; DOI: 10.1136/jmg.37.12.e47
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1
T J L DE RAVEL, G MATTHIJS, M HOLVOET, C WOUTERS, E LEGIUS, J P FRYNS

Journal of Medical Genetics Nov 2000, 37 (11) e34; DOI: 10.1136/jmg.37.11.e34
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy
MICHEALA A ALDRED, R JANE BAGSHAW, KAY MACDERMOT, DAVID CASSON, SIMON H MURCH, J A WALKER-SMITH, RICHARD C TREMBATH

Journal of Medical Genetics Nov 2000, 37 (11) e35; DOI: 10.1136/jmg.37.11.e35

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