Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 5

Results: 29

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L

By:

Rocha, Hugo;
Cabral, Aguinaldo;
Vilarinho, Laura

Publication type:

Article

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 417, doi. 10.1002/1098-1004(200011)16:5<417::AID-HUMU6>3.0.CO;2-4

By:

Bénit, Paule;
Kara-Mostefa, Ali;
Berthelon, Monique;
Sengmany, Kamchan;
Munnich, Arnold;
Bonnefont, Jean-Paul

Publication type:

Article

A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU18>3.0.CO;2-J

By:

Moore, Patrick S.;
Zamboni, Giuseppe;
Falconi, Massimo;
Bassi, Claudio;
Scarpa, Aldo

Publication type:

Article

A novel polymorphism (g722G>A) in exon 2 of the AVPR2 gene.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 450, doi. 10.1002/1098-1004(200011)16:5<450::AID-HUMU29>3.0.CO;2-Z

By:

Lee, Yun Kyung;
Cheong, Hae Il

Publication type:

Article

Hierarchical mutation screening protocol for the BRCA1 gene.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 422, doi. 10.1002/1098-1004(200011)16:5<422::AID-HUMU7>3.0.CO;2-3

By:

Hegde, Madhuri R.;
Chong, Belinda;
Fawkner, Matthew J.;
Leary, Jenny;
Shelling, Andrew N.;
Culling, Bronwyn;
Winship, Ingrid;
Love, Donald R.

Publication type:

Article

Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 444, doi. 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F

By:

Trioche, Pascale;
Francoual, Jeanne;
Chalas, Jacqueline;
Capel, Liliane;
Lindenbaum, Albert;
Odièvre, Michel;
Labrune, Philippe

Publication type:

Article

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 446, doi. 10.1002/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y

By:

Tang, Nelson L.S.;
Hui, Joannie;
Law, L.K.;
Lam, Y.Y.;
Chan, K.Y.;
Yeung, W.L.;
Chan, Albert Y.W.;
Cheung, K.L.;
Fok, T.F.

Publication type:

Article

Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU21>3.0.CO;2-#

By:

Yang, Chi-Fan;
Wu, Jer-Yuarn;
Tsai, Fuu-jen;
Lee, Cheng-Chun;
Lin, Wei-De

Publication type:

Article

Pharmacogenetics of catechol-O-methyltransferase: Frequency of low activity allele in a Ghanaian population.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 445, doi. 10.1002/1098-1004(200011)16:5<445::AID-HUMU13>3.0.CO;2-3

By:

Ameyaw, Margaret-Mary;
Syvänen, Ann-Christine;
Ulmanen, Ismo;
Ofori-Adjei, David;
McLeod, Howard L.

Publication type:

Article

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 386, doi. 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y

By:

Matthijs, G.;
Schollen, E.;
Bjursell, C.;
Erlandson, A.;
Freeze, H.;
Imtiaz, F.;
Kjaergaard, S.;
Martinsson, T.;
Schwartz, M.;
Seta, N.;
Vuillaumier-Barrot, S.;
Westphal, V.;
Winchester, B.

Publication type:

Article

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 401, doi. 10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J

By:

Wang, Yuhuan;
Taroni, Franco;
Garavaglia, Barbara;
Longo, Nicola

Publication type:

Article

Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 450, doi. 10.1002/1098-1004(200011)16:5<450::AID-HUMU28>3.0.CO;2-1

By:

Belmahdi, F.;
Chevalier, D.;
Lo-Guidice, J.M.;
Allorge, D.;
Cauffiez, C.;
Lafitte, J.J.;
Broly, F.

Publication type:

Article

A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor α4 subunit gene, CHRNA4.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 450, doi. 10.1002/1098-1004(200011)16:5<450::AID-HUMU27>3.0.CO;2-4

By:

Akiyoshi, Hidetaka;
Iwata, Hiromi;
Fukuma, Goryu;
Yonetani, Minako;
Wada, Kazumaru;
Kaneko, Sunao;
Mitsudome, Akihisa;
Hirose, Shinichi

Publication type:

Article

Wiskott Aldrich Syndrome in an Israeli family: Identification of a novel G40V mutation.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU20>3.0.CO;2-2

By:

Rottem, M.;
Alon-Shalev, S.;
Shneor, Y.;
Hujeirat, Y.

Publication type:

Article

Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 377, doi. 10.1002/1098-1004(200011)16:5<377::AID-HUMU1>3.0.CO;2-2

By:

Ellard, Sian

Publication type:

Article

Six novel MEN1 gene mutations in sporadic parathyroid tumors.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 445, doi. 10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6

By:

Cetani, Filomena;
Pardi, Elena;
Giovannetti, Anna;
Cerrai, Paola;
Borsari, Simona;
Vignali, Edda;
Picone, Antonella;
Cianferotti, Luisella;
Miccoli, Paolo;
Pinchera, Aldo;
Marcocci, Claudio

Publication type:

Article

Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of pseudoxanthoma elasticum patients: Possible sequence correction?

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU24>3.0.CO;2-O

By:

Germain, Dominique P.;
Remones, Veronique;
Perdu, Jerome;
Jeunemaitre, Xavier

Publication type:

Article

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M

By:

Wu, Mei-Chen;
Tsai, Fuu-jen;
Lee, Cheng-Chun;
Tsai, Chang-Hai;
Wu, Jer-Yuarn

Publication type:

Article

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU23>3.0.CO;2-R

By:

Tsai, Fuu-Jen;
Yang, Chi-fan;
Wu, Jer-Yuarn;
Lin, Hui-Ju;
Lee, Cheng-Chun;
Tsai, Chang-Hai

Publication type:

Article

Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU16>3.0.CO;2-P

By:

Booth, D.R.;
Stangou, A.;
Williams, R.S.;
Gillmore, J.D.;
Tennent, G.A.;
Hawkins, P.N.

Publication type:

Article

Jagged1 ( JAG1) mutation detection in an Australian Alagille syndrome population.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 408, doi. 10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9

By:

Heritage, Mandy L.;
MacMillan, John C.;
Colliton, Raymond P.;
Genin, Anna;
Spinner, Nancy B.;
Anderson, Gregory J.

Publication type:

Article

Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 437, doi. 10.1002/1098-1004(200011)16:5<437::AID-HUMU9>3.0.CO;2-Q

By:

Mattocks, Christopher;
Tarpey, Patrick;
Bobrow, Martin;
Whittaker, Joanne

Publication type:

Article

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 431, doi. 10.1002/1098-1004(200011)16:5<431::AID-HUMU8>3.0.CO;2-Z

By:

Wilke, Klaus;
Duman, Bülent;
Horst, Jürgen

Publication type:

Article

Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: Expression of mutated genes.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 444, doi. 10.1002/1098-1004(200011)16:5<444::AID-HUMU11>3.0.CO;2-C

By:

Aguiari, Gianluca;
Savelli, Simone;
Garbo, Monica;
Bozza, Angela;
Augello, Giuseppina;
Penolazzi, Letizia;
De Paoli Vitali, Ermanno;
La Torre, Costantina;
Cappelli, Gianni;
Piva, Roberta;
del Senno, Laura

Publication type:

Article

Identification of a novel mutation C144F in the notch3 gene in an Australian CADASIL pedigree.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU26>3.0.CO;2-I

By:

Grigg, Rachel;
Lea, Rod;
Sullivan, A.A.;
Curtain, Robert;
MacMillian, John;
Griffiths, Lyn

Publication type:

Article

Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU19>3.0.CO;2-D

By:

Erdmann, Jeanette;
Hassfeld, Sabine;
Kallisch, Heike;
Fleck, Eckart;
Regitz-Zagrose, Vera

Publication type:

Article

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 395, doi. 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T

By:

Bjursell, Cecilia;
Erlandson, Anna;
Nordling, Margareta;
Nilsson, Staffan;
Wahlström, Jan;
Stibler, Helena;
Kristiansson, Bengt;
Martinsson, Tommy

Publication type:

Article

Two 3′ polymorphisms in DLX5: g126427delTATC and g126249T→C.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU22>3.0.CO;2-X

By:

Hart, P.S.;
Michalec, M.D.;
Wright, J.T.;
Hart, T.C.

Publication type:

Article

A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema.

Published in:

Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU15>3.0.CO;2-S

By:

Feldmann, Delphine;
Bard, Martin;
Chauve, Corinne;
Couderc, Remy

Publication type:

Article