Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 5

Results: 22

Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 486, doi. 10.1002/humu.20473

By:

Lin, Yi-Wen;
Chia-Ling Hsu, Lea;
Kuo, Pao-Lin;
Huang, William J.;
Chiang, Han-Sun;
Yeh, Shauh-Der;
Hsu, Tuan-Yi;
Yu, Yueh-Hsiang;
Hsiao, Kuang-Nan;
Cantor, Rita M.;
Yen, Pauline H.

Publication type:

Article

CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 451, doi. 10.1002/humu.20466

By:

Rozanska, Matylda;
Sobczak, Krzysztof;
Jasinska, Anna;
Napierala, Marek;
Kaczynska, Danuta;
Czerny, Anna;
Koziel, Magdalena;
Kozlowski, Piotr;
Olejniczak, Marta;
Krzyzosiak, Wlodzimierz J.

Publication type:

Article

Impact of the Alcohol-Dehydrogenase ( ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic Japanese.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 506, doi. 10.1002/humu.20477

By:

Matsuo, Keitaro;
Hiraki, Akio;
Hirose, Kaoru;
Ito, Hidemi;
Suzuki, Takeshi;
Wakai, Kenji;
Tajima, Kazuo

Publication type:

Article

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 524, doi. 10.1002/humu.9490

By:

Donnarumma, Michela;
Regis, Stefano;
Tappino, Barbara;
Rosano, Camillo;
Assereto, Stefania;
Corsolini, Fabio;
Di Rocco, Maja;
Filocamo, Mirella

Publication type:

Article

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 526, doi. 10.1002/humu.9494

By:

Mahajan, Anubha;
Chavali, Sreenivas;
Ghosh, Saurabh;
Kabra, Madhulika;
Chowdhury, Madhumita Roy;
Bharadwaj, Dwaipayan

Publication type:

Article

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 459, doi. 10.1002/humu.20465

By:

Giorda, Roberto;
Ciccone, Roberto;
Gimelli, Giorgio;
Pramparo, Tiziano;
Beri, Silvana;
Bonaglia, Maria Clara;
Giglio, Sabrina;
Genuardi, Maurizio;
Argente, Jesùs;
Rocchi, Mariano;
Zuffardi, Orsetta

Publication type:

Article

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 495, doi. 10.1002/humu.20476

By:

Gerstenblith, Meg R.;
Goldstein, Alisa M.;
Fargnoli, Maria Concetta;
Peris, Ketty;
Landi, Maria Teresa

Publication type:

Article

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 417, doi. 10.1002/humu.20469

By:

Khan, Shahid Y.;
Ahmed, Zubair M.;
Shabbir, Muhammad I.;
Kitajiri, Shin-ichiro;
Kalsoom, Saeeda;
Tasneem, Saba;
Shayiq, Sara;
Ramesh, Arabandi;
Srisailpathy, Srikumari;
Khan, Shaheen N.;
Smith, Richard J.H.;
Riazuddin, Saima;
Friedman, Thomas B.;
Riazuddin, Sheikh

Publication type:

Article

Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 525, doi. 10.1002/humu.9493

By:

Ramus, Susan J;
Harrington, Patricia A;
Pye, Carole;
Peock, Susan;
Cook, Margaret R;
Cox, Mark J;
Jacobs, Ian J;
DiCioccio, Richard A;
Whittemore, Alice S;
Piver, M Steven;
Easton, Douglas F.;
Ponder, Bruce AJ;
Pharoah, Paul DP;
Gayther, Simon A

Publication type:

Article

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9486

By:

Vanmolkot, Kaate R.J.;
Babini, Elena;
de Vries, Boukje;
Stam, Anine H.;
Freilinger, Tobias;
Terwindt, Gisela M.;
Norris, Lisa;
Haan, Joost;
Frants, Rune R.;
Ramadan, Nabih M.;
Ferrari, Michel D.;
Pusch, Michael;
van den Maagdenberg, Arn M.J.M.;
Dichgans, Martin

Publication type:

Article

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 469, doi. 10.1002/humu.20471

By:

Király, Orsolya;
Boulling, Arnaud;
Witt, Heiko;
Le Maréchal, Cédric;
Chen, Jian-Min;
Rosendahl, Jonas;
Battaggia, Cinzia;
Wartmann, Thomas;
Sahin-Tóth, Miklós;
Férec, Claude

Publication type:

Article

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 424, doi. 10.1002/humu.20457

By:

Hayward, Bruce E.;
De Vos, Michel;
Valleley, Elizabeth M.A.;
Charlton, Ruth S.;
Taylor, Graham R.;
Sheridan, Eamonn;
Bonthron, David T.

Publication type:

Article

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 511, doi. 10.1002/humu.20479

By:

Pomares, Esther;
Marfany, Gemma;
Brión, Ma José;
Carracedo, Angel;
Gonzàlez-Duarte, Roser

Publication type:

Article

Novel mutations in FRMD7 in X-linked congenital nystagmus.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 525, doi. 10.1002/humu.9492

By:

Schorderet, Daniel F.;
Tiab, Leila;
Gaillard, Marie-Claire;
Lorenz, Birgit;
Klainguti, Georges;
Kerrison, John B.;
Traboulsi, Elias I.;
Munier, Francis L.

Publication type:

Article

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 523, doi. 10.1002/humu.9489

By:

Khaddour, Rana;
Smith, Ursula;
Baala, Lekbir;
Martinovic, Jéléna;
Clavering, Davina;
Shaffiq, Rizwana;
Ozilou, Catherine;
Cullinane, Andrew;
Kyttälä, Mira;
Shalev, Stavit;
Audollent, Sophie;
d'Humières, Camille;
Kadhom, Noman;
Esculpavit, Chantal;
Viot, Géraldine;
Boone, Claire;
Oien, Christine;
Encha-Razavi, Férechté;
Batman, Philip A;
Bennett, Christopher P

Publication type:

Article

Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 477, doi. 10.1002/humu.20470

By:

Osorio, A.;
Milne, R.L.;
Honrado, E.;
Barroso, A.;
Diez, O.;
Salazar, R.;
de la Hoya, M.;
Vega, A.;
Benítez, J.

Publication type:

Article

Patterns of variation in DNA segments upstream of transcription start sites.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 441, doi. 10.1002/humu.20463

By:

Labuda, Damian;
Labbé, Catherine;
Langlois, Sylvie;
Lefebvre, Jean-Francois;
Freytag, Virginie;
Moreau, Claudia;
Sawicki, Jakub;
Beaulieu, Patrick;
Pastinen, Tomi;
Hudson, Thomas J.;
Sinnett, Daniel

Publication type:

Article

The 2006 Human Genome Variation Society scientific meeting.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 517, doi. 10.1002/humu.20489

By:

Oetting, William S.

Publication type:

Article

Mutational analysis of CACNA1G in idiopathic generalized epilepsy.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 524, doi. 10.1002/humu.9491

By:

Singh, Baljinder;
Monteil, Arnaud;
Bidaud, Isabelle;
Sugimoto, Yoshihisa;
Suzuki, Toshimitsu;
Hamano, Shin-ichiro;
Oguni, Hirokazu;
Osawa, Makiko;
Alonso, Maria E.;
Delgado-Escueta, Antonio V.;
Inoue, Yushi;
Yasui-Furukori, Norio;
Kaneko, Sunao;
Lory, Philippe;
Yamakawa, Kazuhiro

Publication type:

Article

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 523, doi. 10.1002/humu.9488

By:

Fedele, Anthony Olind;
Filocamo, Mirella;
Di Rocco, Maja;
Sersale, Giovanna;
Lübke, Torben;
di Natale, Paola;
Cosma, Maria Pia;
Ballabio, Andrea

Publication type:

Article

Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis.

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 431, doi. 10.1002/humu.20462

By:

Hu, Zhibin;
Wang, Haifeng;
Shao, Minhua;
Jin, Guangfu;
Sun, Weiwei;
Wang, Yi;
Liu, Hongliang;
Wang, Ying;
Ma, Hongxia;
Qian, Ji;
Jin, Li;
Wei, Qingyi;
Lu, Daru;
Huang, Wei;
Shen, Hongbing

Publication type:

Article

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2).

Published in:

Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9487

By:

Ramprasad, Vedam L.;
Ebenezer, Neil D.;
Aung, Tin;
Rajagopal, Rama;
Yong, Victor H.K.;
Tuft, Stephen J.;
Viswanathan, Deepa;
El-Ashry, Mohamed F.;
Liskova, Petra;
Tan, Donald T.H.;
Bhattacharya, Shomi S.;
Kumaramanickavel, Govindasamy;
Vithana, Eranga N.

Publication type:

Article