Volume 16; Issue 5

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Human Mutation
Volume 16; Issue 5

Human Mutation

Volume 16; Issue 5

1

Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young

Journal:

Year:

2000

Language:

english

File:

PDF, 260 KB

english, 2000

2

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

G. Matthijs, E. Schollen, C. Bjursell, A. Erlandson, H. Freeze, F. Imtiaz, S. Kjaergaard, T. Martinsson, M. Schwartz, N. Seta, S. Vuillaumier-Barrot, V. Westphal, B. Winchester

Journal:

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

3

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

Cecilia Bjursell, Anna Erlandson, Margareta Nordling, Staffan Nilsson, Jan Wahlström, Helena Stibler, Bengt Kristiansson, Tommy Martinsson

Journal:

Year:

2000

Language:

english

File:

PDF, 216 KB

english, 2000

4

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype–phenotype correlation

Yuhuan Wang, Franco Taroni, Barbara Garavaglia, Nicola Longo

Journal:

Year:

2000

Language:

english

File:

PDF, 252 KB

english, 2000

5

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

Mandy L. Heritage, John C. MacMillan, Raymond P. Colliton, Anna Genin, Nancy B. Spinner, Gregory J. Anderson

Journal:

Year:

2000

Language:

english

File:

PDF, 306 KB

english, 2000

6

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

Paule Bénit, Ali Kara-Mostefa, Monique Berthelon, Kamchan Sengmany, Arnold Munnich, Jean-Paul Bonnefont

Journal:

Year:

2000

Language:

english

File:

PDF, 175 KB

english, 2000

7

Hierarchical mutation screening protocol for the BRCA1 gene

Madhuri R. Hegde, Belinda Chong, Matthew J. Fawkner, Jenny Leary, Andrew N. Shelling, Bronwyn Culling, Ingrid Winship, Donald R. Love

Journal:

Year:

2000

Language:

english

File:

PDF, 344 KB

english, 2000

8

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

Klaus Wilke, Bülent Duman, Jürgen Horst

Journal:

Year:

2000

Language:

english

File:

PDF, 261 KB

english, 2000

9

Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA

Christopher Mattocks, Patrick Tarpey, Martin Bobrow, Joanne Whittaker

Journal:

Year:

2000

Language:

english

File:

PDF, 385 KB

english, 2000

10

Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients

Pascale Trioche, Jeanne Francoual, Jacqueline Chalas, Liliane Capel, Albert Lindenbaum, Michel Odièvre, Philippe Labrune

Journal:

Year:

2000

Language:

english

File:

PDF, 14 KB

english, 2000

11

Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: Expression of mutated genes

Gianluca Aguiari, Simone Savelli, Monica Garbo, Angela Bozza, Giuseppina Augello, Letizia Penolazzi, Ermanno De Paoli Vitali, Costantina La Torre, Gianni Cappelli, Roberta Piva, Laura del Senno

Journal:

Year:

2000

Language:

english

File:

PDF, 73 KB

english, 2000

12

Six novel MEN1 gene mutations in sporadic parathyroid tumors

Filomena Cetani, Elena Pardi, Anna Giovannetti, Paola Cerrai, Simona Borsari, Edda Vignali, Antonella Picone, Luisella Cianferotti, Paolo Miccoli, Aldo Pinchera, Claudio Marcocci

Journal:

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

13

Pharmacogenetics of catechol-O-methyltransferase: Frequency of low activity allele in a Ghanaian population

Margaret-Mary Ameyaw, Ann-Christine Syvänen, Ismo Ulmanen, David Ofori-Adjei, Howard L. McLeod

Journal:

Year:

2000

Language:

english

File:

PDF, 25 KB

english, 2000

14

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families

Nelson L.S. Tang, Joannie Hui, L.K. Law, Y.Y. Lam, K.Y. Chan, W.L. Yeung, Albert Y.W. Chan, K.L. Cheung, T.F. Fok

Journal:

Year:

2000

Language:

english

File:

PDF, 35 KB

english, 2000

15

A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema

Delphine Feldmann, Martin Bard, Corinne Chauve, Remy Couderc

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

16

Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy

D.R. Booth, A. Stangou, R.S. Williams, J.D. Gillmore, G.A. Tennent, P.N. Hawkins

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

17

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

Mei-Chen Wu, Fuu-jen Tsai, Cheng-Chun Lee, Chang-Hai Tsai, Jer-Yuarn Wu

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

18

A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma

Patrick S. Moore, Giuseppe Zamboni, Massimo Falconi, Claudio Bassi, Aldo Scarpa

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

19

Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy

Jeanette Erdmann, Sabine Hassfeld, Heike Kallisch, Eckart Fleck, Vera Regitz-Zagrose

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

20

Wiskott Aldrich Syndrome in an Israeli family: Identification of a novel G40V mutation

M. Rottem, S. Alon-Shalev, Y. Shneor, Y. Hujeirat

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

21

Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese

Chi-Fan Yang, Jer-Yuarn Wu, Fuu-jen Tsai, Cheng-Chun Lee, Wei-De Lin

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

22

Two 3′ polymorphisms in DLX5: g126427delTATC and g126249T→C

P.S. Hart, M.D. Michalec, J.T. Wright, T.C. Hart

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

23

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis

Fuu-Jen Tsai, Chi-fan Yang, Jer-Yuarn Wu, Hui-Ju Lin, Cheng-Chun Lee, Chang-Hai Tsai

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

24

Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of pseudoxanthoma elasticum patients: Possible sequence correction?

Dominique P. Germain, Veronique Remones, Jerome Perdu, Xavier Jeunemaitre

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

25

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease)

Hugo Rocha, Aguinaldo Cabral, Laura Vilarinho

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

26

Identification of a novel mutation C144F in the notch3 gene in an Australian CADASIL pedigree

Rachel Grigg, Rod Lea, A.A. Sullivan, Robert Curtain, John MacMillian, Lyn Griffiths

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

27

A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor α4 subunit gene, CHRNA4

Hidetaka Akiyoshi, Hiromi Iwata, Goryu Fukuma, Minako Yonetani, Kazumaru Wada, Sunao Kaneko, Akihisa Mitsudome, Shinichi Hirose

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

28

Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population

F. Belmahdi, D. Chevalier, J.M. Lo-Guidice, D. Allorge, C. Cauffiez, J.J. Lafitte, F. Broly

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

29

A novel polymorphism (g722G>A) in exon 2 of the AVPR2 gene

Yun Kyung Lee, Hae Il Cheong

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

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