Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 1

Results: 34

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 54, doi. 10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C

By:

Blau, Nenad;
Scherer-Oppliger, Tanja;
Baumer, Alessandra;
Riegel, Mariluce;
Matasovic, Ana;
Schinzel, Albert;
Jaeken, Jaak;
Thöny, Beat

Publication type:

Article

A novel missense mutation (L198R) in the Friedreich's ataxia gene.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E

By:

Al-Mahdawi, Sahar;
Pook, Mark;
Chamberlain, Susan

Publication type:

Article

The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 31, doi. 10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO;2-I

By:

Liu, Jing-Zhong;
Li, Xuemin;
Drost, Joni;
Thorland, Erik C.;
Liu, Qiang;
Lind, Tammy;
Roberts, Stacy;
Wang, H.Y.;
Sommer, Steve S.

Publication type:

Article

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the γ2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU32>3.0.CO;2-V

By:

Mergenthaler, S.;
Blagitko-Dorfs, N.;
Wollmann, H.A.;
Ranke, M.B.;
Ropers, H.H.;
Kalscheuer, V.M.;
Eggermann, T.

Publication type:

Article

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T

By:

Sankila, Eeva-Marja;
Joensuu, Tarja H.;
Hämäläinen, Riikka H.;
Raitanen, Nina;
Valle, Olavi;
Ignatius, Jaakko;
Cormand, Bru

Publication type:

Article

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa; Robyn Kerr, Gwynneth Stevens, Prashiela Manga, Sarah Salm, Premila John, Tabitha Haw, and Michele Ramsay; (Article was originally published in Human Mutation 15:166-172, 2000)

Published in:: Human Mutation, 2000, v. 16, n. 1, p. 87, doi. 10.1002/1098-1004(200007)16:1<87::AID-HUMU14>3.0.CO;2-P
Publication type:: Article

Identification of PATCHED mutations in medulloblastomas by direct sequencing.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 89, doi. 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7

By:

Dong, Jianli;
Gailani, Mae R.;
Pomeroy, Scott L.;
Reardon, David;
Bale, Allen E.

Publication type:

Article

Distribution of Q188R and N314D mutations in the Hungarian galactosemic population.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 91, doi. 10.1002/1098-1004(200007)16:1<91::AID-HUMU21>3.0.CO;2-D

By:

Horváth, A.;
Gyurus, P.;
Kis, A.;
László, A.;
Schuler, Á.;
Kosztolányi, G.;
Melegh, B.

Publication type:

Article

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 1, doi. 10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J

By:

Sabbagh, Yves;
Jones, Andrew O.;
Tenenhouse, Harriet S.

Publication type:

Article

A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P

By:

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

Publication type:

Article

3′ polymorphisms of ETS1 are associated with different clinical phenotypes in SLE.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 49, doi. 10.1002/1098-1004(200007)16:1<49::AID-HUMU9>3.0.CO;2-Z

By:

Sullivan, Kathleen E.;
Piliero, Lisa M.;
Dharia, Tushar;
Goldman, Daniel;
Petri, Michelle A.

Publication type:

Article

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU30>3.0.CO;2-3

By:

Feuillet-Fieux, Marie-Noëlle;
Sermet, Isabelle;
Edelman, Aleksander;
Torossi, Tania;
Ferrec, Magali;
Guillot, Marcel;
Lenoir, Gérard;
Bonnefont, Jean-Paul;
Thuillier, Laure

Publication type:

Article

Signature-based analysis of MET proto-oncogene mutations using DHPLC.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 68, doi. 10.1002/1098-1004(200007)16:1<68::AID-HUMU12>3.0.CO;2-U

By:

Nickerson, Michael L.;
Weirich, Gregor;
Zbar, Berton;
Schmidt, Laura S.

Publication type:

Article

Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2).

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 92, doi. 10.1002/1098-1004(200007)16:1<92::AID-HUMU23>3.0.CO;2-4

By:

Oda, T.;
Elkahloun, A.G.;
Meltzer, P.S.;
Okajima, K.;
Sugiyama, K.;
Wada, Y.;
Chandrasekharappa, S.C.

Publication type:

Article

Genetic heterogeneity in Peutz-Jeghers syndrome.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 23, doi. 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M

By:

Boardman, Lisa A.;
Couch, Fergus J.;
Burgart, Lawrence J.;
Schwartz, David;
Berry, Rebecca;
McDonnell, Shannon K.;
Schaid, Daniel J.;
Hartmann, Lynn C.;
Schroeder, Jennifer J.;
Stratakis, Constantine A.;
Thibodeau, Stephen N.

Publication type:

Article

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 90, doi. 10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J

By:

Wimmer, Katharina;
Eckart, Markus;
Stadler, Peter F.;
Rehder, Helga;
Fonatsch, Christa

Publication type:

Article

Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 88, doi. 10.1002/1098-1004(200007)16:1<88::AID-HUMU16>3.0.CO;2-G

By:

Khoo, Ui-Soon;
Ngan, Hextan Y.S.;
Cheung, Annie N.Y.;
Chan, Kelvin Y.K.;
Lu, Jing;
Chan, Vivian W.Y.;
Lau, Susan;
Andrulis, Irene L.;
Ozcelik, Hilmi

Publication type:

Article

Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU31>3.0.CO;2-0

By:

Martinez-Gimeno, María;
Trujillo, María José;
Lorda, Isabel;
Gimenez, Ascensión;
Calvo, María Teresa;
Ayuso, Carmen;
Carballo, Miguel

Publication type:

Article

Rapid and comprehensive determination of cytochrome P450 CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 77, doi. 10.1002/1098-1004(200007)16:1<77::AID-HUMU13>3.0.CO;2-T

By:

Roberts, Rebecca;
Sullivan, Patrick;
Joyce, Peter;
Kennedy, Martin A.

Publication type:

Article

Enzymatic mutation detection (EMD™) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 92, doi. 10.1002/1098-1004(200007)16:1<92::AID-HUMU24>3.0.CO;2-1

By:

Youil, Rima;
Toner, Timothy J.;
Bull, Evelyn;
Bailey, Anne L.;
Earl, Christopher D.;
Dietz, Harry C.;
Montgomery, Robert A.

Publication type:

Article

Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 89, doi. 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A

By:

Kozák, Libor;
Francová, Hana;
Hrabincová, Eva;
Štastná, Sylvie;
Pešková, Karolína;
Elleder, Milan

Publication type:

Article

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU28>3.0.CO;2-H

By:

Raux, G.;
Gantier, R.;
Martin, C.;
Pothin, Y.;
Brice, A.;
Frebourg, T.;
Campion, D.

Publication type:

Article

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 18, doi. 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N

By:

Aalfs, Cora M.;
Salieb-Beugelaar, Georgette B.;
Wanders, Ronald J.A.;
Mannens, Marcel M.A.M.;
Wijburg, Frits A.

Publication type:

Article

The spectrum of patched mutations in a collection of Australian basal cell carcinomas.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 43, doi. 10.1002/1098-1004(200007)16:1<43::AID-HUMU8>3.0.CO;2-7

By:

Evans, Timothy;
Boonchai, Waranya;
Shanley, Susan;
Smyth, Ian;
Gillies, Susan;
Georgas, Kylie;
Wainwright, Brandon;
Chenevix-Trench, Georgia;
Wicking, Carol

Publication type:

Article

Polymorphism (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 96, doi. 10.1002/1098-1004(200007)16:1<96::AID-HUMU33>3.0.CO;2-S

By:

Lin, Ruby C.Y.;
Morris, Brian J.

Publication type:

Article

Private β- and γ-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 13, doi. 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V

By:

Fanin, Marina;
Hoffman, Eric P.;
Angelini, Corrado;
Pegoraro, Elena

Publication type:

Article

Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 88, doi. 10.1002/1098-1004(200007)16:1<88::AID-HUMU15>3.0.CO;2-J

By:

Hass, Juliette;
Mayer, Karin;
Rott, Hans-Dieter

Publication type:

Article

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q

By:

Lam, Ching-Wan;
Chan, Kwok-Yin;
Tong, Sui-Fan;
Chan, Bik-Yan;
Chan, Yuk-Tat;
Chan, Yan-Wo

Publication type:

Article

Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 91, doi. 10.1002/1098-1004(200007)16:1<91::AID-HUMU22>3.0.CO;2-A

By:

Glasl, S.;
Papatheodorou, L.;
Baretton, Gustavo;
Jung, Ch.;
Gross, M.

Publication type:

Article

Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU27>3.0.CO;2-N

By:

Menache, Caroline C.;
Brown, Charlotte A.;
Donnelly, Joseph H.;
Shapiro, Frederic;
Darras, Basil T.

Publication type:

Article

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 37, doi. 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9

By:

Raz, Tal;
Labay, Valentina;
Baron, Dana;
Szargel, Raymonde;
Anbinder, Yefim;
Barrett, Tim;
Rabl, Wolfgang;
Viana, Marcos B.;
Mandel, Hanna;
Baruchel, Andre;
Cayuela, Jean-Michel;
Cohen, Nadine

Publication type:

Article

Evaluation of enzymatic mutation detection™ in hereditary nonpolyposis colorectal cancer.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 61, doi. 10.1002/1098-1004(200007)16:1<61::AID-HUMU11>3.0.CO;2-H

By:

Otway, Robyn;
Tetlow, Natasha;
Hornby, June;
Kohonen-Corish, Maija

Publication type:

Article

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 7, doi. 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO;2-A

By:

Antoniadi, T.;
Grønskov, K.;
Sand, A.;
Pampanos, A.;
Brøndum-Nielsen, K.;
Petersen, M.B.

Publication type:

Article

Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 90, doi. 10.1002/1098-1004(200007)16:1<90::AID-HUMU19>3.0.CO;2-U

By:

Yeowell, Heather N.;
Walker, Linda C.;
Farmer, Brent;
Heikkinen, Jari;
Myllyla, Raili

Publication type:

Article