Clinical Genetics

Susceptibility genes in breast cancer: more is less?
pp. 493-496(4)
Author: Willems, Patrick J

β-Globin gene cluster polymorphisms are strongly associated with severity of HbE/β⁰-thalassemia
pp. 497-505(9)
Authors: Ma,; Abel,; Sripichai,; Whitacre,; Angkachatchai,; Makarasara,; Winichagoon,; Fucharoen,; Braun,; Farrer,

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
pp. 506-516(11)
Authors: Wieland,; Weidner,; Ciccone,; Lapi,; McDonald-McGinn,; Kress,; Jakubiczka,; Collmann,; Zuffardi,; Zackai,; Wieacker,

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine
pp. 517-523(7)
Authors: Tonelli,; Gallanti,; Bersano,; Cardin,; Ballabio,; Airoldi,; Redaelli,; Candelise,; Bresolin,; Bassi,

Increased dental caries in people with neurofibromatosis 1
pp. 524-527(4)
Authors: Tucker,; Birch,; Savoy,; Friedman,

A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability
pp. 528-531(4)
Authors: Mononen,; von Koskull,; Airaksinen,; Juvonen,

Do carriers of POLG mutation W748S have disease manifestations?
pp. 532-537(6)
Authors: Rantamäki,; Luoma,; Virta,; Rinne,; Paetau,; Suomalainen,; Udd,

Non-neuronopathic Gaucher disease due to saposin C deficiency
pp. 538-542(5)
Authors: Tylki-Szymańska,; Czartoryska,; Vanier,; Poorthuis,; Groener,; Ługowska,; Millat,; Vaccaro,; Jurkiewicz,

Survival estimates for patients with Machado-Joseph disease (SCA3)
pp. 543-545(3)
Authors: Kieling,; Prestes,; Saraiva-Pereira,; Jardim,

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
pp. 546-550(5)
Authors: Kitajiri,; McNamara,; Makishima,; Husnain,; Zafar,; Kittles,; Ahmed,; Friedman,; Riazuddin,; Griffith,

Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer
pp. 551-555(5)
Authors: Barnetson,; Devlin,; Miller,; Farrington,; Slater,; Drake,; Campbell,; Dunlop,; Porteous,

Germline hMSH2 promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOH
pp. 556-561(6)
Authors: Yan,; Jin,; Xue,; Mei,; Ding,; Hao,; Sun,

The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP
pp. 562-567(6)
Authors: Ramsoekh,; van Leerdam,; Tops,; Dooijes,; Steyerberg,; Kuipers,; Wagner,

Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates
pp. 568-573(6)
Authors: de Leng, WWJ; Jansen,; Carvalho,; Polak,; Musler,; Milne,; Keller,; Menko,; de Rooij, FWM; Iacobuzio-Donahue,; Giardiello,; Weterman,; Offerhaus,

Association of the estrogen receptor α gene polymorphisms with osteoporosis in the Mexican population
pp. 574-581(8)
Authors: Gómez,; Magaña,; Cisneros,; Pérez-Salazar,; Faugeron,; Véliz,; Castro,; Rubio,; Casas,; Valdés-Flores,

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay
pp. 582-592(11)
Authors: Krahn,; Pécheux,; Chapon,; Béroud,; Drouin-Garraud,; Laforet,; Romero,; Penisson-Besnier,; Bernard,; Urtizberea,; Leturcq,; Lévy,

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe
pp. 593-598(6)
Authors: Møller,; Hansen,; Jackson,; Ullmann,; Ropers,; Tommerup,; Tümer,

The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population
pp. 599-600(2)