Volume 16; Issue 6

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Human Mutation
Volume 16; Issue 6

Human Mutation

Volume 16; Issue 6

1

Mutations in the LMNA gene encoding lamin A/C

Janine Genschel, Hartmut H.-J. Schmidt

Journal:

Year:

2000

Language:

english

File:

PDF, 220 KB

english, 2000

2

SALL1 mutations in Townes-Brocks syndrome and related disorders

Jürgen Kohlhase

Journal:

Year:

2000

Language:

english

File:

PDF, 206 KB

english, 2000

3

First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient

Hiroko Morisaki, Itsuro Higuchi, Mayumi Abe, Mitsuhiro Osame, Takayuki Morisaki

Journal:

Year:

2000

Language:

english

File:

PDF, 260 KB

english, 2000

4

Identification of two functionally deficient plasma α3-fucosyltransferase (FUT6) alleles

Anders Elmgren, Cecilia Börjeson, Rosella Mollicone, Rafael Oriol, Anne Fletcher, Göran Larson

Journal:

Year:

2000

Language:

english

File:

PDF, 339 KB

english, 2000

5

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer

Ewa Grzybowska, Helena Zientek, Anna Jasinska, Marek Rusin, Piotr Kozlowski, Krzysztof Sobczak, Anna Sikorska, Eliza Kwiatkowska, Laura Gorniak, Ewa Kalinowska, Beata Utracka-Hutka, Jan Wloch, Ewa Chm

Journal:

Year:

2000

Language:

english

File:

PDF, 347 KB

english, 2000

6

Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

Ronit Shiri-Sverdlov, Peter Oefner, Limor Green, Ruth Gershoni Baruch, Teresa Wagner, Anna Kruglikova, Samario Haitchick, Robert M.W. Hofstra, Moshe Z. Papa, Inge Mulder, Shulamit Rizel, Revital Bruch

Journal:

Year:

2000

Language:

english

File:

PDF, 342 KB

english, 2000

7

Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

S. Prasad, R.A. Cucci, G.E. Green, R.J.H. Smith

Journal:

Year:

2000

Language:

english

File:

PDF, 232 KB

english, 2000

8

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

Cisca Wijmenga, R. Scott Hansen, Giorgio Gimelli, Erik J. Björck, E. Graham Davies, David Valentine, Bernd H. Belohradsky, Jacques J. van Dongen, Dominique F.C.M. Smeets, Lambert P.W.J. van den Heuvel

Journal:

Year:

2000

Language:

english

File:

PDF, 249 KB

english, 2000

9

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content

Jean-Louis Escary, Michaelle Cécillon, Jacqueline Maciazek, Mark Lathrop, Elisabeth Tournier-Lasserve, Anne Joutel

Journal:

Year:

2000

Language:

english

File:

PDF, 288 KB

english, 2000

10

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency syndrome; Dong Wang; Pamela Kranz-Eble; Darryl C. De Vivo; (Article was originally published in Human Mutation 16:224–231, 2000)

Journal:

Year:

2000

File:

PDF, 106 KB

2000

11

Novel thymidylate synthase enhancer region alleles in African populations

Sharon Marsh, Margaret M. Ameyaw, Jessie Githang'a, Anne Indalo, David Ofori-Adjei, Howard L. McLeod

Journal:

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

12

BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations

Luan Tao, Mark Boyd, Greg Gonye, Barbara Malone, Jerrold Schwaber

Journal:

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

13

Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations

Roberta Campanile A. Leite, Daniela S. Basseres, Jovino S. Ferreira, Fernando Lopes Alberto, Fernando F. Costa, Sara T.O. Saad

Journal:

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

14

Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany

Marion Kiechle, Eva Gross, Ulrike Schwarz-Boeger, Jacobus Pfisterer, Walter Jonat, Wolf-Dieter Gerber, Birgit Albacht, Barbara Fischer, Brigitte Schlegelberger, Norbert Arnold

Journal:

Year:

2000

Language:

english

File:

PDF, 14 KB

english, 2000

15

Polymorphisms in a pseudogene highly homologous to PMS2

Robert B. Chadwick, Julie E. Meek, Thomas W. Prior, PaivI Peltomaki, Albert de la Chapelle

Journal:

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

16

Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients

Varaporn Akkarapatumwong, Sorasak Intorasoot, Sumalee Oranwiroon, Prapaporn Thano-otarakul, Parichat Pung-amritt, Gavivann Veerakul, Chularatana Mahasandana, Sakol Panyim, Pa-thai Yenchitsomanus

Journal:

Year:

2000

Language:

english

File:

PDF, 17 KB

english, 2000

17

Molecular analysis of the TFR2 gene: Report of a novel polymorphism (1878C>T)

Mirella Meregalli, Andrea Pellagatti, Elena Bissolotti, Anna Ludovica Fracanzani, Silvia Fargion, Maurizio Sampietro

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

18

Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria

Adriana De Siervi, Victoria E. Parera, Alcira M. del C. Batlle, María V. Rossetti

Journal:

Year:

2000

Language:

english

File:

PDF, 14 KB

english, 2000

19

Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms

Cécile Batandier, Aleth Picard, Nadine Tessier, Joël Lunardi

Journal:

Year:

2000

Language:

english

File:

PDF, 8 KB

english, 2000

20

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient

Manuela Seia, Angelo Cantù-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Alessandra Bassotti, G. Pizzamiglio, Annamaria Giunta, Rita Padoan

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

21

TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopia

Yuk-Fai Leung, Pancy Oi-Sin Tam, Larry Baum, Dennis Shun-Chiu Lam, Calvin Chi-Pui Pang

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

22

A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1)

Andreas Weinhaeusel, Heinrich Vierhapper, Robert Schlegl, Theresa Wagner, Daniela Muhr, Christian Scheuba, Bruno Niederle, Oskar A. Haas

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

23

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene

Patrick Kloos, Susanne Mergenthaler, Michael B. Ranke, Hartmut A. Wollmann, Thomas Eggermann

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

24

Novel variants in 3 kb of 5′UTR of the β1-adrenergic receptor gene (–93C>T, –210C>T, and –2146T>C): –2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart disease

Katrin Wenzel, Stephan B. Felix, David Bauer, Petra Heere, Christina Flachmeier, Svenia Podlowski, Karla Köpke, Margret R. Hoehe

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

25

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective

Johannes Berger, Thomas Korosec, Gertraud Unterrainer, Brunhilde Molzer

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000