Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 2

Results: 23

Mutations in holoprosencephaly.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 99, doi. 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0

By:

Wallis, Deeann;
Muenke, Maximilian

Publication type:

Article

Study of the voltage-gated sodium channel β1 subunit gene ( SCN1B) in the benign familial infantile convulsions syndrome (BFIC).

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 139, doi. 10.1002/1098-1004(200008)16:2<139::AID-HUMU6>3.0.CO;2-J

By:

Moulard, Bruno;
Buresi, Catherine;
Malafosse, Alain

Publication type:

Article

A novel variant of human lysozyme (T70N) is common in the normal population.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU20>3.0.CO;2-#

By:

Booth, David R.;
Pepys, Mark B.;
Hawkins, Philip N.

Publication type:

Article

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8

By:

Santer, R.;
Rischewski, J.;
Block, G.;
Kinner, M.;
Wendel, U.;
Schaub, J.;
Schneppenheim, R.

Publication type:

Article

mut<sup>0</sup> methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 179, doi. 10.1002/1098-1004(200008)16:2<179::AID-HUMU17>3.0.CO;2-R

By:

Fuchshuber, A.;
Mucha, B.;
Baumgartner, E.R.;
Vollmer, M.;
Hildebrandt, F.

Publication type:

Article

VARIATION, DATABASES, and DISEASE: New directions for Human Mutation.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 97, doi. 10.1002/1098-1004(200008)16:2<97::AID-HUMU1>3.0.CO;2-5

By:

Paalman, Mark H.;
Cotton, Richard G.H.;
Kazazian, Haig H.

Publication type:

Article

The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 132, doi. 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T

By:

Goyette, Philippe;
Rozen, Rima

Publication type:

Article

Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 166, doi. 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4

By:

Bogdanova, Nadja;
McCluskey, Marie;
Sikmann, Karin;
Markoff, Arseni;
Todorov, Vassil;
Dimitrakov, Dimitar;
Schiavello, Tina;
Thomas, Mark;
Kalaydjieva, Luba;
Dworniczak, Bernd;
Horst, Jürgen

Publication type:

Article

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 176, doi. 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E

By:

Giunta, Cecilia;
Steinmann, Beat

Publication type:

Article

Common polymorphism in p53 intron 2, IVS2+38G>C.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 181, doi. 10.1002/1098-1004(200008)16:2<181::AID-HUMU23>3.0.CO;2-O

By:

Verselis, Sigitas J.;
Li, Frederick P.

Publication type:

Article

Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 178, doi. 10.1002/1098-1004(200008)16:2<178::AID-HUMU16>3.0.CO;2-X

By:

Saikawa, Yutaka;
Kaneda, Hisashi;
Yue, Lijie;
Shimura, Shoetu;
Toma, Tomoko;
Kasahara, Yoshihito;
Yachie, Akihiro;
Koizumi, Shoichi

Publication type:

Article

The Breast Cancer Information Core: Database design, structure, and scope.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 123, doi. 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y

By:

Szabo, Csilla;
Masiello, Anthony;
Ryan, Joseph F.;
Brody, Lawrence C.

Publication type:

Article

OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 157, doi. 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9

By:

Monnier, Nicole;
Satre, Véronique;
Lerouge, Eliane;
Berthoin, Florence;
Lunardi, Joël

Publication type:

Article

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 176, doi. 10.1002/1098-1004(200008)16:2<176::AID-HUMU11>3.0.CO;2-H

By:

Koptides, Michael;
Mean, Richard;
Demetriou, Kyproula;
Constantinides, Rolandos;
Pierides, Alkis;
Harris, Peter C.;
Deltas, C. Constantinou

Publication type:

Article

Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 181, doi. 10.1002/1098-1004(200008)16:2<181::AID-HUMU22>3.0.CO;2-R

By:

Hajer, Jan;
Kepelová, Anna;
Zádorová, Zdena;
Kment, Milan

Publication type:

Article

Eleven novel APC mutations identified in Portuguese FAP families.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 178, doi. 10.1002/1098-1004(200008)16:2<178::AID-HUMU15>3.0.CO;2-#

By:

Isidro, G.;
Matos, P.;
Almeida, S.;
Claudino, S.;
Marshall, B.;
Soares, J.;
Leite, J.;
Regateiro, F.;
Brito, M.J.;
Giria, J.;
Castro, C.;
Ramos, J.;
Novais, L.;
Morna, H.;
Medeira, A.;
Castedo, S.;
Boavida, M.G.

Publication type:

Article

Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU19>3.0.CO;2-A

By:

Lachmann, H.J.;
Booth, D.R.;
Bybee, A.;
Hawkins, P.N.

Publication type:

Article

Mutations of the human PTEN gene.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 109, doi. 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0

By:

Bonneau, Dominique;
Longy, Michel

Publication type:

Article

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 143, doi. 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J

By:

Claustres, Mireille;
Guittard, Caroline;
Bozon, Dominique;
Chevalier, Françoise;
Verlingue, Claudine;
Ferec, Claude;
Girodon, Emanuelle;
Cazeneuve, Cécile;
Bienvenu, Thierry;
Lalau, Guy;
Dumur, Viviane;
Feldmann, Delphine;
Bieth, Eric;
Blayau, Martine;
Clavel, Christine;
Creveaux, Isabelle;
Malinge, Marie-Claire;
Monnier, Nicole;
Malzac, Perrine;
Mittre, Hervé

Publication type:

Article

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients; Irina V. Mersiyanova, Sookhrat M. Ismailov, Alexandr V. Polyakov, Elena L. Dadali, Valeriy P. Fedotov, Eva Nelis, Ann Löfgren, Vincent Timmerman, Christine Van Broeckhoven, and Oleg V. Evgrafov (Article was originally published in Human Mutation 15:340-347, 2000)

Published in:: Human Mutation, 2000, v. 16, n. 2, p. 175, doi. 10.1002/1098-1004(200008)16:2<175::AID-HUMU10>3.0.CO;2-N
Publication type:: Article

A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: First reported Korean case.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU21>3.0.CO;2-X

By:

Lee, Eun-Ha;
Park, Jae-Hyun;
Coe, Chang-Jun;
Hahn, Si-Houn

Publication type:

Article

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5

By:

Yoshihara, Tsuyoshi;
Yamamoto, Masahiko;
Doyu, Manabu;
Mis, Ken-Ichiro;
Hattori, Naoki;
Hasegawa, Yasuhiro;
Mokuno, Kenji;
Mitsuma, Terunori;
Sobue, Gen

Publication type:

Article

A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene.

Published in:

Human Mutation, 2000, v. 16, n. 2, p. 180, doi. 10.1002/1098-1004(200008)16:2<180::AID-HUMU18>3.0.CO;2-D

By:

Pirulli, Doroti;
Zezlina, Silvia;
Vatta, Laura;
Di Stefano, Paola;
Boniotto, Michele;
Tarone, Guido;
Mongini, Tiziana;
Ugo, Isabella;
Palmucci, Laura;
Amoroso, Antonio;
Crovella, Sergio

Publication type:

Article