Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 3

Results: 33

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 269, doi. 10.1002/1098-1004(200009)16:3<269::AID-HUMU11>3.0.CO;2-2

By:

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

Publication type:

Article

Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 232, doi. 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU30>3.0.CO;2-5

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 269, doi. 10.1002/1098-1004(200009)16:3<269::AID-HUMU12>3.0.CO;2-#

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU27>3.0.CO;2-P

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 190, doi. 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I

By:

Rabionet, Raquel;
Gasparini, Paolo;
Estivill, Xavier

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V

By:

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

Publication type:

Article

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).

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU18>3.0.CO;2-Z

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 275, doi. 10.1002/1098-1004(200009)16:3<275::AID-HUMU22>3.0.CO;2-9

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 275, doi. 10.1002/1098-1004(200009)16:3<275::AID-HUMU23>3.0.CO;2-6

By:

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

Publication type:

Article

MEFV mutations in Behçet's disease.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU33>3.0.CO;2-U

By:

Umino, Yumiko;
Hohjoh, Hirohiko;
Tokunaga, Katsushi

Publication type:

Article

Activating and inactivating mutations in the human GNAS1 gene.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 183, doi. 10.1002/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L

By:

Aldred, Micheala A.;
Trembath, Richard C.

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 224, doi. 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU29>3.0.CO;2-G

By:

Reig, Carlos;
Martinez-Gimeno, María;
Carballo, Miguel

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 203, doi. 10.1002/1098-1004(200009)16:3<203::AID-HUMU3>3.0.CO;2-1

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 264, doi. 10.1002/1098-1004(200009)16:3<264::AID-HUMU9>3.0.CO;2-1

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU26>3.0.CO;2-S

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 273, doi. 10.1002/1098-1004(200009)16:3<273::AID-HUMU19>3.0.CO;2-W

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 211, doi. 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 274, doi. 10.1002/1098-1004(200009)16:3<274::AID-HUMU21>3.0.CO;2-F

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 265, doi. 10.1002/1098-1004(200009)16:3<265::AID-HUMU10>3.0.CO;2-H

By:

Auerbach, Arleen D.

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU32>3.0.CO;2-X

By:

Horinishi, Asako;
Murase, Toshio;
Okubo, Minoru

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 253, doi. 10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 270, doi. 10.1002/1098-1004(200009)16:3<270::AID-HUMU14>3.0.CO;2-J

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 274, doi. 10.1002/1098-1004(200009)16:3<274::AID-HUMU20>3.0.CO;2-I

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 247, doi. 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A

By:

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

Publication type:

Article

Novel mutations in the myocilin gene in Japanese glaucoma patients.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 270, doi. 10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y

By:

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

Publication type:

Article

BRCA1 mutation analysis in breast/ovarian cancer families from Greece.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 272, doi. 10.1002/1098-1004(200009)16:3<272::AID-HUMU17>3.0.CO;2-4

By:

Konstantopoulou, Irene;
Kroupis, Christos;
Ladopoulou, Angela;
Pantazidis, Alexandros;
Boumba, Dimitra;
Lianidou, Evriklia S.;
Petersen, Michael B.;
Florentin, Lina;
Chiotellis, Efstratios;
Nounesis, George;
Efstathiou, Eleni;
Skarlos, Dimosthenis;
Tsionou, Christina;
Fountzilas, George;
Yannoukakos, Drakoulis

Publication type:

Article

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

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU28>3.0.CO;2-J

By:

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

Publication type:

Article