Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 4

Results: 22

Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 371, doi. 10.1002/1098-1004(200010)16:4<371::AID-HUMU10>3.0.CO;2-S

By:

Kozlowski, Piotr;
Sobczak, Krzysztof;
Jasinska, Anna;
Krzyzosiak, Wlodzimierz J.

Publication type:

Article

Oligonucleotide microarray based detection of repetitive sequence changes.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 354, doi. 10.1002/1098-1004(200010)16:4<354::AID-HUMU8>3.0.CO;2-V

By:

Hacia, Joseph G.;
Edgemon, Keith;
Fang, Nicole;
Mayer, R. Aeryn;
Sudano, Dominick;
Hunt, Nathaniel;
Collins, Francis S.

Publication type:

Article

Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 371, doi. 10.1002/1098-1004(200010)16:4<371::AID-HUMU11>3.0.CO;2-P

By:

Li, Xuemin;
Drost, Joni B.;
Roberts, Stacy;
Kasper, Carol;
Sommer, Steve S.

Publication type:

Article

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -A challenging problem.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.0.CO;2-4

By:

Knight, Melanie A.;
Storey, Elsdon;
Gardner, R.J. McKinlay;
Hand, Peter;
Forrest, Susan M.

Publication type:

Article

Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 334, doi. 10.1002/1098-1004(200010)16:4<334::AID-HUMU6>3.0.CO;2-6

By:

Barker, David F.

Publication type:

Article

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q

By:

van der Hoek, Ytje Y.;
Mul-Steinbusch, M.W.f.;
Slee, P.H.Th.J.

Publication type:

Article

Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1).

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 376, doi. 10.1002/1098-1004(200010)16:4<376::AID-HUMU22>3.0.CO;2-6

By:

Rueffert, H.;
Olthoff, D.;
Deutrich, C.;
Kraus, H.;
Froster, U.G.

Publication type:

Article

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 297, doi. 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z

By:

Kadakol, Ajit;
Ghosh, Siddhartha S.;
Sappal, Baljit S.;
Sharma, Girish;
Chowdhury, Jayanta Roy;
Chowdhury, Namita Roy

Publication type:

Article

Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C

By:

Gort, Laura;
Coll, M. Josep;
Chabás, Amparo

Publication type:

Article

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 373, doi. 10.1002/1098-1004(200010)16:4<373::AID-HUMU14>3.0.CO;2-A

By:

Siervi, Adriana De;
Cádiz, Débora E. Weiss;
Parera, Victoria E.;
del C. Batlle, Alcira M.;
Rossetti, Maria Victoria

Publication type:

Article

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 315, doi. 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H

By:

Splendore, Alessandra;
Silva, Elias O.;
Alonso, Luís G.;
Richieri-Costa, Antônio;
Alonso, Nivaldo;
Rosa, Alberto;
Carakushanky, Gerson;
Cavalcanti, Denise P.;
Brunoni, Décio;
Passos-Bueno, Maria Rita

Publication type:

Article

Five novel genetic variants in the promoter and coding region of the αB-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU17>3.0.CO;2-Z

By:

Hahner, Axel;
Erdmann, Jeanette;
Kallisch, Heike;
Fleck, Eckart;
Regitz-Zagrosek, Vera

Publication type:

Article

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 281, doi. 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A

By:

Hendy, Geoffrey N.;
D'Souza-Li, Lilia;
Yang, Bing;
Canaff, Lucie;
Cole, David E.C.

Publication type:

Article

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 323, doi. 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D

By:

Gastier, Julie M.;
Berg, Mary Anne;
Vesterhus, Per;
Reiter, Edward O.;
Francke, Uta

Publication type:

Article

Two novel serine repeat length polymorphisms (1043insS and 1043inssS) at exon 23 of the TSC1 gene.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU18>3.0.CO;2-T

By:

Pipo, Judy R.;
Yamamoto, Toshiyuki;
Takeda, Hiromasa;
Maegawa, Shinji;
Nanba, Eiji;
Ninomiya, Haruaki;
Ohno, Kousaku;
Takeshita, Kenzo

Publication type:

Article

Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3′ end of the mitochondrial 16S rRNA gene.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU20>3.0.CO;2-F

By:

Yang, Tao;
Lam, Ching-Wan;
Tsang, Man-Wo;
Tong, Sui-Fan;
Chan, Lisa Y.S.;
Kam, Grace Y.W.;
Poon, Priscilla M.K.;
Wu, Xiang-Qian;
Pang, Chi-Pui

Publication type:

Article

DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1-3, 2000, Boston, U.S.A.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 364, doi. 10.1002/1098-1004(200010)16:4<364::AID-HUMU9>3.0.CO;2-P

By:

Bray, Paula J.;
Paalman, Mark H.

Publication type:

Article

Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 372, doi. 10.1002/1098-1004(200010)16:4<372::AID-HUMU13>3.0.CO;2-G

By:

Basu, Priyadarshi;
Gangopadhaya, Prasanta K.;
Mukherjee, Subhas C.;
Das, Shyamal K.;
Sinha, Krishna K.;
Bhattacharyya, Nitai P.

Publication type:

Article

Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 372, doi. 10.1002/1098-1004(200010)16:4<372::AID-HUMU12>3.0.CO;2-J

By:

Gat-Yablonski, Galia;
Mandel, Hanna;
Fowler, Brian;
Taleb, Omar;
Sela, Ben-Ami

Publication type:

Article

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 307, doi. 10.1002/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L

By:

Huopaniemi, Laura;
Tyynismaa, Henna;
Rantala, Anne;
Rosenberg, Thomas;
Alitalo, Tiina

Publication type:

Article

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1

By:

Gutierrez, Gertha;
Schneider, Andrea;
Jobs, Jared;
Schmidt, Hartmut;
Korte, Andrea;
Manns, Michael P.;
Stuhrmann, Manfred

Publication type:

Article

Identification of specific BRCA1 and BRCA2 variants by DHPLC.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 345, doi. 10.1002/1098-1004(200010)16:4<345::AID-HUMU7>3.0.CO;2-#

By:

Gross, Eva;
Arnold, Norbert;
Pfeifer, Katharina;
Bandick, Katrin;
Kiechle, Marion

Publication type:

Article