Volume 108; Issue 4

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Human Genetics
Volume 108; Issue 4

Human Genetics

Volume 108; Issue 4

1

Human Gene Mutations

Journal:

Year:

2001

File:

PDF, 8 KB

2001

2

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories

Jonathan Waters, Paul Campbell, A. Crocker, Carolyn Campbell

Journal:

Year:

2001

Language:

english

File:

PDF, 73 KB

english, 2001

3

Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression

Seija Uimonen, Jukka S. Moilanen, Martti Sorri, Ilmo E. Hassinen, Kari Majamaa

Journal:

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

4

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type

Norikazu Sakamoto, Tetsuya Yamamoto, Yuji Moriwaki, Tetsuya Teranishi, Masanori Toyoda, Yutaka Onishi, Shoji Kuroda, Kazuhiko Sakaguchi, Takashi Fujisawa, Mitsuo Maeda, Toshikazu Hada

Journal:

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

5

Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India

Priyadarshi Basu, Partha Majumder, Susanta Roychoudhury, Nitai Bhattacharyya

Journal:

Year:

2001

Language:

english

File:

PDF, 167 KB

english, 2001

6

Linkage of prostate cancer susceptibility loci to chromosome

Jianfeng Xu, Siqun L. Zheng, Bao-li Chang, Jeffrey R. Smith, John D. Carpten, O. Colin Stine, Sarah D. Isaacs, Kathy E. Wiley, Lauren Henning, Charles Ewing, Piroska Bujnovszky, Eugene R. Bleeker, Pat

Journal:

Year:

2001

Language:

english

File:

PDF, 114 KB

english, 2001

7

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling

C. Le Maréchal, M. Audrézet, I. Quéré, O. Raguénès, S. Langonné, C. Férec

Journal:

Year:

2001

Language:

english

File:

PDF, 119 KB

english, 2001

8

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions ofABCR(ABCA4)

Alexander Yatsenko, Noah Shroyer, Richard Lewis, James Lupski

Journal:

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

9

Identification of novelDKC1mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

Stuart Knight, Tom Vulliamy, Ben Morgan, Koen Devriendt, Philip Mason, Inderjeet Dokal

Journal:

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

10

Segregation of a mutation inCNGB1encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

Corinne Bareil, Christian Hamel, Valérie Delague, Bernard Arnaud, Jacques Demaille, Mireille Claustres

Journal:

Year:

2001

Language:

english

File:

PDF, 111 KB

english, 2001

11

Characterisation of novel point mutations in the survival motor neuron geneSMN, in three patients with SMA

Leigh Skordis, Matthew Dunckley, Lydia Burglen, Louise Campbell, Kevin Talbot, Shobna Patel, Judith Melki, Kay Davies, Victor Dubowitz, Francesco Muntoni

Journal:

Year:

2001

Language:

english

File:

PDF, 32 KB

english, 2001

12

Mutation analysis of the origin recognition complex subunit

Stefan Fröhling, Kazuhiko Nakabayashi, Stephen Scherer, Hartmut Döhner, Konstanze Döhner

Journal:

Year:

2001

Language:

english

File:

PDF, 80 KB

english, 2001

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