Clinical Genetics

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene
pp. 289-304(16)
Author: Meyn, M. Stephen

HotSpots
pp. 305-308(4)
Author: Gurwitz, David

Multi-organellar disorders of pigmentation: tied up in traffic
pp. 309-317(9)
Author: Spritz, Richard A

Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history
pp. 318-324(7)
Authors: Tonin, Patricia N; Mes-Masson, Anne-Marie; Narod, Steven A; Ghadirian, Parviz; Provencher, Diane

Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia
pp. 325-331(7)
Authors: Chae, Jae Jin; Kim, Sung Han; Kim, Un Kyung; Han, Ki-Hoon; Kim, Hyo-Soo; Kastner, Daniel L.; Namkoong, Yong; Park, Young-Bae; Lee, Chung Choo

An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
pp. 332-339(8)
Authors: Ekström, Ulf; Abrahamson, Magnus; Florén, Claes-Henrik; Tollig, Henrik; Wettrell, Göran; Nilsson, Gerd; Sun, Xi-Ming; Soutar, Anne K; Nilsson-Ehle, Peter

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry
pp. 340-345(6)
Authors: Loubser, Odell; Marais, A David; Kotze2, Maritha J; Godenir, Nicole; Thiart2, Rochelle; Scholtz2, Charlotte L; de Villiers2, J Nico P; Hillermann2, Renate; Firth, Jean C; Weich, Hellmuth Fh; Maritz, Frans; Jones2, Sheena; van der Westhuyzen, Deneys R

Tissue-specific methylation differences in a fragile X premutation carrier
pp. 346-352(7)
Authors: Tassone, Flora; Longshore, John; Zunich, Janice; Steinbach, Peter; Salat, Ulrike; Taylor, Annette K

Allele distribution at the FMR1 locus in the general Chinese population
pp. 353-356(4)
Authors: Chiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-Liang

FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue
pp. 357-362(6)
Authors: Álvarez-Nava, Francisco; Martínez, María C; González, Sandra; Soto, Marisol; Borjas, Lisbeth; Rojas, Alicia

Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations
pp. 363-367(5)
Authors: Kalz-Füller, Burga; Sleegers, Eva; Schwanitz, Gesa; Schubert, Regine

Pure trisomy 10p involving an isochromosome 10p
pp. 367-371(5)
Authors: Berend, Sue Ann; Shaffer, Lisa G; Bejjani, Bassem A

Partial trisomy 17p detected by spectral karyotyping
pp. 372-375(4)
Authors: Morelli, Susan H; Deubler, Debra A; Brothman, Lisa J; Carey, John C; Brothman, Arthur R

High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling
pp. 377-381(5)
Authors: Alcántara, Ma; Villarreal, Mt; Del Castillo, V; Gutiérrez, G; Saldaña, Y; Maulen, I; Lee, R; Macías, M; Orozco, L

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
pp. 382-383(2)

Ebstein's anomaly associated with trisomy 9p
pp. 384-386(3)

Infantile sialic acid storage disease: report of the first case in South America
pp. 387-389(3)
Author: Author, An

Ethics and genetics: Advanced European bioethics course
pp. 389-389(1)
Author: Author, An