Volume 16; Issue 3

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Human Mutation
Volume 16; Issue 3

Human Mutation

Volume 16; Issue 3

1

Activating and inactivating mutations in the human GNAS1 gene

Micheala A. Aldred, Richard C. Trembath

Journal:

Year:

2000

Language:

english

File:

PDF, 201 KB

english, 2000

2

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Raquel Rabionet, Paolo Gasparini, Xavier Estivill

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Year:

2000

Language:

english

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PDF, 449 KB

english, 2000

3

Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans

Joni B. Drost, William A. Scaringe, Ana Rebeca Jaloma-Cruz, Xuemin Li, Diego F. Ossa, Carol K. Kasper, Steve S. Sommer

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Year:

2000

Language:

english

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PDF, 259 KB

english, 2000

4

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

Edgar Otto, Regina Betz, Cornelia Rensing, Silvia Schätzle, Thomas Kuntzen, Thalia Vetsi, Anita Imm, Friedhelm Hildebrandt

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Year:

2000

Language:

english

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PDF, 469 KB

english, 2000

5

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome

Dong Wang, Pamela Kranz-Eble, Darryl C. De Vivo

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Year:

2000

Language:

english

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PDF, 328 KB

english, 2000

6

Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

K. Laake, L. Jansen, J.M. Hahnemann, K. Brøndum-Nielsen, T. Lönnqvist, H. Kääriäinen, R. Sankila, A. Lähdesmäki, L. Hammarström, J. Yuen, S. Tretli, A. Heiberg, J.H. Olsen, M. Tucker, R. Kleinerman, A

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Year:

2000

Language:

english

File:

PDF, 446 KB

english, 2000

7

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

E. Schollen, L. Dorland, T.J. de Koning, O.P. Van Diggelen, J.G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze, G. Matth

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Year:

2000

Language:

english

File:

PDF, 225 KB

english, 2000

8

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

B. Gérard, N. Ginet, G. Matthijs, P. Evrard, C. Baumann, F. Da Silva, M. Gérard-Blanluet, M. Mayer, B. Grandchamp, J. Elion

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Year:

2000

Language:

english

File:

PDF, 355 KB

english, 2000

9

Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G

Stan R. Svojanovsky, Thomas D. Schneider, Peter K. Rogan

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Year:

2000

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english

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PDF, 70 KB

english, 2000

10

8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada

Arleen D. Auerbach

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Year:

2000

Language:

english

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PDF, 134 KB

english, 2000

11

Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia

Orit Jakobovitz-Picard, David Olchovsky, Meir Berezin, Azizela Ghodsizade, Zvi Zahavi, Avraham Karasik, Gideon Rechavi, Eitan Friedman

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Year:

2000

Language:

english

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PDF, 69 KB

english, 2000

12

Mutations in familial porphyria cutanea tarda: Two novel and two previously described for hepatoerythropoietic porphyria

Manuel Mendez, María Victoria Rossetti, Adriana De Siervi, Alcira M. del Carmen Batlle, Victoria Parera

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Year:

2000

Language:

english

File:

PDF, 61 KB

english, 2000

13

Novel mutations in the myocilin gene in Japanese glaucoma patients

Ryo Kubota, Yukihiko Mashima, Yuichiro Ohtake, Tomihiko Tanino, Tairo Kimura, Yoshihiro Hotta, Atsushi Kanai, Satoru Tokuoka, Ikuo Azuma, Hidenobu Tanihara, Masaru Inatani, Yoichi Inoue, Jun Kudoh, Yo

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Year:

2000

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english

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PDF, 22 KB

english, 2000

14

A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect

Akio Koizumi, Yutaka Shoji, Jun-nichi Nozaki, Atsuko Noguchi, Xiaofei E, Miwako Dakeishi, Toshihiro Ohura, Kayo Tsuyoshi, Wada Yasuhiko, Motomu Manabe, Yuhei Takasago, Goro Takada

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Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

15

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations

M. Gomez Lira, M. Mottes, P.F. Pignatti, I. Medica, G. Uziel, M. Cappa, E. Bertini, N. Rizzuto, A. Salviati

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Year:

2000

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english

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PDF, 57 KB

english, 2000

16

MEFV mutations in Behçet's disease

Isabelle Touitou, Xavier Magne, Nicolas Molinari, André Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Ozen, Aysin Bakkaloglu, Aysen Karaduman, Jean Marc Garnier, Jacques Demaille, Isabelle

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Year:

2000

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english

File:

PDF, 47 KB

english, 2000

17

BRCA1 mutation analysis in breast/ovarian cancer families from Greece

Irene Konstantopoulou, Christos Kroupis, Angela Ladopoulou, Alexandros Pantazidis, Dimitra Boumba, Evriklia S. Lianidou, Michael B. Petersen, Lina Florentin, Efstratios Chiotellis, George Nounesis, El

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Year:

2000

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english

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PDF, 40 KB

english, 2000

18

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)

Sian Ellard, Michael P. Bulman, Timothy M. Frayling, Maggie Shepherd, Andrew T. Hattersley

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Year:

2000

Language:

english

File:

PDF, 130 KB

english, 2000

19

Sequence variation within the RPGR gene: Evidence for a founder complex allele

Ilaria Zito, Alex Morris, Phil Tyson, Ingrid Winship, Dianne Sharp, Dale Gilbert, Dawn L. Thiselton, Shomi S. Bhattacharya, Alison J. Hardcastle

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Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

20

Two distinct alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations

Hao Pang, Noboru Fujitani, Mikiko Soejima, Yoshiro Koda, Mohammed Nasimul Islam, A.K.M. Shamsul Islam, Hiroshi Kimura

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Year:

2000

Language:

english

File:

PDF, 158 KB

english, 2000

21

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1

E. Girodon Boulandet, J. Pantel, C. Cazeneuve, M. Van Gijn, D. Vidaud, S. Lemay, J. Martin, J. Zeller, J. Revuz, M. Goossens, S. Amselem, P. Wolkenstein

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Year:

2000

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english

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PDF, 56 KB

english, 2000

22

A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

Rita Gardella, Sergio Barlati, Nicoletta Zoppi, Gianluca Tadini, Marina Colombi

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Year:

2000

Language:

english

File:

PDF, 157 KB

english, 2000

23

An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese

Guangxun Meng, Jinduo Yuan, Liguo An, Jialei Gong, Hanmin Zhu, Sisong Cui, Zhengyan Yu, Gengxi Hu

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Year:

2000

Language:

english

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PDF, 31 KB

english, 2000

24

Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree

George Miltiadous, Moses Elisaf, Stavroulla Xenophontos, Panayiotis Manoli, Marios A. Cariolou

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Year:

2000

Language:

english

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PDF, 14 KB

english, 2000

25

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

Aldo Giannotti, Alessandra Tessa, Clarice Patrono, Lucia De Florio, Margherita Velardo, Carlo Dionisi-Vici, Enrico Bertini, Filippo M. Santorelli

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Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

26

A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene

Hans Hermann Seydewitz, Tanja Gonska, Marcus Mall, Joachim Kueh

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Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

27

CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C

Petr A. Slominsky, Marya I. Shadrina, Ekaterina A. Kondratyeva, Tatiana V. Tupitsina, Gleb N. Levitsky, Veronika I. Skvortsova, Svetlana A. Limborska

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Year:

2000

Language:

english

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PDF, 17 KB

english, 2000

28

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene

Janine Genschel, Peter Baier, Susanne Kuepferling, Marcus J. Proepsting, Carsten Buettner, Ralf Ewert, Roland Hetzer, Herbert Lochs, Hartmut H.-J. Schmidt

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Year:

2000

Language:

english

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PDF, 10 KB

english, 2000

29

A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?

Carlos Reig, María Martinez-Gimeno, Miguel Carballo

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Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

30

Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene

Janine Genschel, Grit Sommer, Regina Haas, Carsten Buettner, Bettina Bochow, Michael Manns, Herbert Lochs, Hartmut H.-J. Schmidt

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Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

31

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

Manuela Seia, Angelo Cantù-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Carlo Corbetta, Alessandra Bassotti, Elena Moretti, Annamaria Giunta, Rita Padoan

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Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

32

Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene

Asako Horinishi, Toshio Murase, Minoru Okubo

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Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

33

Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association

Yumiko Umino, Hirohiko Hohjoh, Katsushi Tokunaga

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Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000