Clinical Genetics

HotSpots - Insufficient death: autoimmune lymphoproliferative syndrome
pp. 110-111(2)
Authors: Wellington, Cheryl; Hackam, Abigail S.

HotSpots - Cutting it close: new insights into presenilin-1 function
pp. 112-113(2)
Authors: Wellington, Cheryl; Hackam, Abigail S.

HotSpots - An unusual ataxia
pp. 113-115(3)
Authors: Wellington, Cheryl; Hackam, Abigail S.

Genetic landmarks through philately - Kabuki theater and Kabuki syndrome
pp. 116-117(2)
Authors: Mhanni, Aizeddin A; Chudley, Albert E

Genetic counselling in multiple sclerosis: risks to sibs and children of affected individuals
pp. 118-122(5)
Authors: Sadovnick, AD; Dircks, A; Ebers, GC

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis
pp. 123-128(6)
Authors: Heilstedt, HA; Shapira, SK; Gregg, AR; Shaffer, LG

FISH analysis with locus-specific probes in sperm from two translocation carrier men
pp. 129-135(7)
Authors: Durak, Beyhan; Hakan Özön, Yavuz; Özdemir, Muhsin; Artan, Sevilhan; Basaran, Nurettin; Basaran, Seher; Özkinay, Cihangir

STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients
pp. 136-141(6)
Authors: Jiang, Cao-Yang; Esufali, Susmita; Berk, Terri; Gallinger, Steven; Cohen, Zane; Tobi, Martin; Redston, Mark; Bapat, Bharati

Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects
pp. 142-144(3)
Authors: Speer, MC; Nye, J; McLone, D; Worley, G; Melvin, EC; Viles, KD; Franklin, A; Drake, C; Mackey, J; George, TM

Short rib-polydactyly syndrome: more evidence of a continuous spectrum
pp. 145-148(4)
Authors: Sarafoglou, Kyriake; Funai, Edmund F; Fefferman, Nancy; Zajac, Laura; Geneiser, Nancy; Paidas, Michael J; Greco, Alba; Wallerstein, Robert

Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
pp. 149-153(5)
Authors: Fauré, Sabine; Bordelais, Isabelle; Marquette, Catherine; Rittey, Chris; Campos-Castello, Jaime; Goutières, Françoise; Ponsot, Gérard; Weissenbach, Jean; Lebon, Pierre

Kabuki syndrome: description of dental findings in 8 patients
pp. 154-157(4)
Authors: Mhanni, AA; Cross, HG; Chudley, AE

Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins
pp. 158-163(6)
Authors: Boer, Jolanda MA; Kuivenhoven, Jan Albert; Feskens, Edith JM; Schouten, Evert G; Havekes, Louis M; Seidell, Jacob C; Kastelein, John JP; Kromhout, Daan

Serum total IgE levels and CD14 on chromosome 5q31
pp. 164-165(2)

Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study
pp. 166-167(2)

High frequency of type 1 GM1 gangliosidosis in southern Brazil
pp. 168-169(2)

Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement
pp. 170-172(3)

A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis
pp. 173-175(3)

Correspondence
pp. 176-176(1)

Correspondence
pp. 177-177(1)
Author: Author, An