Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 12

Results: 30

Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1989, doi. 10.1093/hmg/5.12.1989

By:

Klomp, Leo W. J.;
Gitlin, Jonathan D.

Publication type:

Article

Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1867, doi. 10.1093/hmg/5.12.1867

By:

Leclerc, D.;
Campeau, E.;
Goyette, P.;
Adjalla, C. E.;
Christensen, B.;
Ross, M.;
Eydoux, P.;
Rosenblatt, D. S.;
Rozen, R.;
Gravel, R. A.

Publication type:

Article

De Novo Mutation of GDNF, Ligand for the RET/GDNFR-α Receptor Complex, in Hirschsprung Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2023, doi. 10.1093/hmg/5.12.2023

By:

Ivanchuk, Stacey M.;
Myers, Shirley M.;
Eng, Charis;
Mulligan, Lois M.

Publication type:

Article

Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1887, doi. 10.1093/hmg/5.12.1887

By:

Stevanin, Giovanni;
Trottier, Yvon;
Cancel, Géraldine;
Dürr, Alexandra;
David, Gilles;
Didierjean, Olivier;
Bürk, Katrin;
Imbert, Georges;
Saudou, Frederic;
Abada-Bendib, Myriem;
Gourfinkel-An, Isabelle;
Benomar, Ali;
Abbas, Nacer;
Klockgether, Thomas;
Grid, Djamel;
Agid, Yves;
Mandel, Jean-Louis;
Brice, Alexis

Publication type:

Article

Ataxia-Telangiectasia: Founder Effect Among North African Jews.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2033, doi. 10.1093/hmg/5.12.2033

By:

Gilad, Shlomit;
Bar-Shira, Anat;
Harnik, Reli;
Shkedy, Dganit;
Ziv, Yael;
Khosravi, Rami;
Brown, Kevin;
Vanagaite, Lina;
Xu, Gang;
Frydman, Moshe;
Lavin, Martin F.;
Hill, David;
Tagle, Danilo A.;
Shiloh, Yosef

Publication type:

Article

Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1909, doi. 10.1093/hmg/5.12.1909

By:

Oshima, Junko;
Yu, Chang-En;
Piussan, Charles;
Klein, Georg;
Jabkowski, Jörg;
Balci, Sevim;
Miki, Tetsuro;
Nakura, Jun;
Ogihara, Toshio;
Ells, James;
Smith, Marilia de A. C.;
Melaragno, Maria I.;
Fraccaro, Marco;
Scappaticci, Susi;
Matthews, John;
Ouais, Samir;
Jarzebowicz, Amy;
Schellenberg, Gerard D.;
Martin, George M.

Publication type:

Article

Imprinting Mutation in the Beckwith-Wiedemann Syndrome Leads to Biallelic IGF2 expression through an H19-Independent Pathway.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2027, doi. 10.1093/hmg/5.12.2027

By:

Brown, Keith W.;
Villar, Angela J.;
Bickmore, Wendy;
Clayton-Smith, Jill;
Catchpoole, Daniel;
Maher, Eamonn R.;
Reik, Wolf

Publication type:

Article

Human Huntingtin Derived from YAC Transgenes Compensates for Loss of Murine Huntingtin by Rescue of the Embryonic Lethal Phenotype.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1875, doi. 10.1093/hmg/5.12.1875

By:

Hodgson, J. Graeme;
Smith, Desmond J.;
McCutcheon, Krista;
Koide, H. Brook;
Nishiyama, Kazutoshi;
Dinulos, Mary Beth;
Stevens, Mary E.;
Bissada, Nagat;
Nasir, Jamal;
Kanazawa, Ichiro;
Disteche, Christine M.;
Rubin, Edward M.;
Hayden, Michael R.

Publication type:

Article

Evidence for Subtelomeric Exchange of 3.3 kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1997, doi. 10.1093/hmg/5.12.1997

By:

van Deutekom, Judith C. T.;
Bakker, Egbert;
Lemmers, Richard J. L. F.;
van der Wielen, Michiel J. R.;
Bik, Elsa;
Hofker, Marten H.;
Padberg, George W.;
Frants, Rune R.

Publication type:

Article

Identification of Non-Amplifying CYP21 Genes When Using PCR-Based Diagnosis of 21-Hydroxylase Deficiency in Congenital Adrenal Hyperplasia (CAH) Affected Pedigrees.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2039, doi. 10.1093/hmg/5.12.2039

By:

Day, Darren J.;
Speiser, Phyllis W.;
Schulze, Egbert;
Bettendorf, M.;
Fitness, Jodene;
Barany, Francis;
White, Perrin C.

Publication type:

Article

Mapping of DFN2 to Xq22.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2055, doi. 10.1093/hmg/5.12.2055

By:

Tyson, Jessica;
Bellman, Sue;
Newton, Valerie;
Simpson, Pat;
Malcolm, Sue;
Pembrey, Marcus E.;
Bitner-Glindzicz, Maria

Publication type:

Article

ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1899, doi. 10.1093/hmg/5.12.1899

By:

Picketts, David J.;
Higgs, Douglas R.;
Bachoo, Satvinder;
Blake, Derek J.;
Quarrell, Oliver W. J.;
Gibbons, Richard J.

Publication type:

Article

Linkage of the Gene for the Triple A Syndrome to Chromosome 12q13 Near the Type II Keratin Gene Cluster.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2061, doi. 10.1093/hmg/5.12.2061

By:

Weber, Angela;
Wienker, Thomas F.;
Jung, Martin;
Easton, Douglas;
Dean, Heather J.;
Heinrichs, Claudine;
Reis, Andre;
Clark, Adrian J. L.

Publication type:

Article

An Extended Region of Biallelic Gene Expression and Rodent-Human Synteny Downstream of the Imprinted H19 Gene on Chromosome 11p15.5.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1931, doi. 10.1093/hmg/5.12.1931

By:

Yuan, Luwa;
Qian, Naifeng;
Tycko, Benjamin

Publication type:

Article

Molecular and Biochemical Analysis of Protective Protein/Cathepsin A Mutations: Correlation with Clinical Severity in Galactosialidosis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1977, doi. 10.1093/hmg/5.12.1977

By:

Zhou, Xiao-Yan;
van der Spoel, Aarnoud;
Rottier, Robbert;
Hale, Greg;
Willemsen, Rob;
Berry, Gerard T.;
Strisciuglio, Pietro;
Andria, Generoso;
d'Azzo, Alessandra

Publication type:

Article

Unequal Interchromosomal Rearrangements May Result in Elastin Gene Deletions Causing the Williams-Beuren syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1893, doi. 10.1093/hmg/5.12.1893

By:

Dutly, Fabrizio;
Schinzel, Albert

Publication type:

Article

Cloning, Mapping and RNA Analysis of the Human Methionine Synthase Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1851

By:

Li, Yunan N.;
Gulati, Sumedha;
Baker, Priscilla J.;
Brody, Lawrence C.;
Banerjee, Ruma;
Kruger, Warren D.

Publication type:

Article

The Human Autosomal Gene DAZLA: Testis Specificity and a Candidate for Male Infertility.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2013, doi. 10.1093/hmg/5.12.2013

By:

Yen, Pauline H.;
Chai, Ning Ning;
Salido, Eduardo C.

Publication type:

Article

The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1963, doi. 10.1093/hmg/5.12.1963

By:

Vainzof, M.;
Passos-Bueno, M. R.;
Canovas, M.;
Moreira, E. S.;
Pavanello, R. C. M.;
Marie, S. K.;
Anderson, L. V. B.;
Bonnemann, C. G.;
McNally, E. M.;
Nigro, V.;
Kunkel, L. M.;
Zatz, M.

Publication type:

Article

Delivery of a Hammerhead Ribozyme Specifically Down-Regulates the Production of Fibrillin-1 by Cultured Dermal Fibroblasts.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1939, doi. 10.1093/hmg/5.12.1939

By:

Kilpatrick, Michael W.;
Phylactou, Leonidas A.;
Godfrey, Maurice;
Wu, Catherine H.;
Wu, George Y.;
Tsipouras, Petros

Publication type:

Article

A SPGY Copy Homologous to the Mouse Gene Dazla and the Drosophila Gene Boule is Autosomal and Expressed Only in the Human Male Gonad.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2005, doi. 10.1093/hmg/5.12.2005

By:

Shan, Zhihong;
Hirschmann, Peter;
Seebacher, Thomas;
Edelmann, Angela;
Jauch, Anna;
Morell, Jane;
Urbitsch, Peter;
Vogt, Peter H.

Publication type:

Article

Linkage of Blepharophimosis Syndrome in a Large Indian Pedigree to Chromosome 7p.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2049, doi. 10.1093/hmg/5.12.2049

By:

Maw, Marion;
Kar, Bibhas;
Biswas, Jyotirmay;
Biswas, Partha;
Nancarrow, Derek;
Bridges, Robyn;
Kumaramanickavel, Govindasamy;
Denton, Michael;
Badrinath, S. S.

Publication type:

Article

Frameshift Mutation in the Survival Motor Neuron Gene in a Severe Case Of SMA Type I.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1971, doi. 10.1093/hmg/5.12.1971

By:

Brahe, Christina;
Clermont, Olivier;
Zappata, Stefania;
Tiziano, Francesco;
Melki, Judith;
Neri, Giovanni

Publication type:

Article

Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1953, doi. 10.1093/hmg/5.12.1953

By:

Bönnemann, Carsten G.;
Passos-Bueno, M. Rita;
McNally, Elizabeth M.;
Vainzof, Mariz;
Moreira, Eloísa de Sá;
Marie, Suely K.;
Pavanello, Rita C. M.;
Noguchi, Satoru;
Ozawa, Eijiro;
Zatz, Mayana;
Kunkel, Louis M.

Publication type:

Article

Two Chimaeric Transcription Units Result from an Inversion Breaking Intron 1 of the Factor VIII Gene and a Region Reportedly Affected by Reciprocal Translocations in T-cell Leukaemia.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1945, doi. 10.1093/hmg/5.12.1945

By:

Brinke, Astrid;
Tagliavacca, Luigina;
Naylor, Jennifer;
Green, Peter;
Giangrande, Paul;
Giannelli, Francesco

Publication type:

Article

Familial Infiltrative Fibromatosis (Desmoid Tumours) (MIM135290) Caused by a Recurrent 3′ APC Gene Mutation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1921, doi. 10.1093/hmg/5.12.1921

By:

Scott, Rodney J.;
Froggatt, Nicola J.;
Trembath, Richard C.;
Evans, D. Gareth R.;
Hodgson, Shirley V.;
Maher, Eamonn R.

Publication type:

Article

The Molecular Basis of Boston-Type Craniosynostosis: The Pro148→His Mutation in the N-Terminal Arm of the MSX2 Homeodomain Stabilizes DNA Binding without Altering Nucleotide Sequence Preferences.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1915

By:

Ma, Liang;
Golden, Serge;
Wu, Linda;
Maxson, Rob

Publication type:

Article

Identification of Two Mutations in a Compound Heterozygous Child with Dihydrolipoamide Dehydrogenase Deficiency.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1925, doi. 10.1093/hmg/5.12.1925

By:

Hong, Young Soo;
Kerr, Douglas S.;
Craigen, William J.;
Tan, Jie;
Pan, Yanzhen;
Lusk, Marilyn;
Patel, Mulchand S.

Publication type:

Article

Defects in Human Methionine Synthase in cblG Patients.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 1859, doi. 10.1093/hmg/5.12.1859

By:

Gulati, Sumedha;
Baker, Priscilla;
Li, Yunan N.;
Fowler, Brian;
Kruger, Warren;
Brody, Lawrence C.;
Banerjee, Ruma

Publication type:

Article

A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 12, p. 2019, doi. 10.1093/hmg/5.12.2019

By:

Piccolo, F.;
Jeanpierre, M.;
Leturcq, F.;
Dodé, C.;
Azibi, K.;
Toutain, A.;
Merlini, L.;
Jarre, L.;
Navarro, C.;
Krishnamoorthy, R.;
Tomé, F. M. S.;
Urtizberea, J. A.;
Beckmann, J. S.;
Campbell, K. P.;
Kaplan, J.-C.

Publication type:

Article