Eye Diseases

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
Isabelle Coupry, Laurence Taine, Cyril Goizet, Carine Soriano, Bruno Mortemousque, Benoît Arveiler, Didier Lacombe

Journal of Medical Genetics Jan 2001, 38 (1) 35-38; DOI: 10.1136/jmg.38.1.35
Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status
SUSANNE MERGENTHALER, KATJA EGGERMANN, JÜRGEN TOMIUK, MICHAEL B RANKE, HARTMUT A WOLLMANN, THOMAS EGGERMANN

Journal of Medical Genetics Dec 2000, 37 (12) e44; DOI: 10.1136/jmg.37.12.e44
Bardet-Biedl and Cohen syndromes: differential diagnostic criteria
METTE WARBURG, RUTH RIISE

Journal of Medical Genetics Dec 2000, 37 (12) e46; DOI: 10.1136/jmg.37.12.e46
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
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII
A C NICHOLLS, J L SHER, M J WRIGHT, C OLEY, R F MUELLER, F M POPE

Journal of Medical Genetics Nov 2000, 37 (11) e33; DOI: 10.1136/jmg.37.11.e33
Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease
DEBORAH L STONE, NAHID TAYEBI, CHANELLE COBLE, EDWARD I GINNS, ELLEN SIDRANSKY

Journal of Medical Genetics Nov 2000, 37 (11) e40; DOI: 10.1136/jmg.37.11.e40
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, Michaela Jaksch

Journal of Medical Genetics Sep 2000, 37 (9) 669-673; DOI: 10.1136/jmg.37.9.669
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M AMIR, KHALIL I AL-TAWIL, MUNEEF M AL-HATHAL

Journal of Medical Genetics Sep 2000, 37 (9) e21; DOI: 10.1136/jmg.37.9.e21
Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22
GHAZALA MIRZA, KIYOSHI IMAIZUMI, JIANNIS RAGOUSSIS

Journal of Medical Genetics Sep 2000, 37 (9) e22; DOI: 10.1136/jmg.37.9.e22
Proximal 10q trisomy: a new case with anal atresia
F W F LAM, W K CHAN, S T S LAM, W P CHU, N S KWONG

Journal of Medical Genetics Sep 2000, 37 (9) e24; DOI: 10.1136/jmg.37.9.e24

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