Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 4

Results: 47

Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 767

By:

Purandare, Smita M.;
Lanyon, W.George;
Arngrimsson, Reynir;
Connor, J. Michael

Publication type:

Article

Frame-shift mutation and reduced transcript of p53 gene in a renal cell carcinoma cell line, RCC23.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 771

By:

Horikawa, Izumi;
Suzuki, Mikio;
Yoshida, Mitsuaki A.;
Oshimura, Mitsuo

Publication type:

Article

Two novel factor IX promoter mutations: incremental progress towards ‘saturation in vivo mutagenesis’ of a human promoter region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 769

By:

Ketterling, Rhett P.;
Liu, Jing-zhong;
Liao, Dongzhou;
Kasper, Carol K.;
Ambriz, Raul;
Paredes, Rogello;
Sommer, Steve S.

Publication type:

Article

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 763

By:

Budarf, Marcia L.;
Konkle, Barbara A.;
Ludlow, Laural B.;
Michaud, Dominique;
Li, Mengrong;
Yamashiro, Darrell J.;
McDonald-McGinn, Donna;
Zackai, Elaine H.;
Driscoll, Deborah A.

Publication type:

Article

A point mutation in exon 2 of the CD4O ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 759

By:

Ramesh, Narayanaswamy;
Fuleihan, Ramsay;
Swinton, Paul;
Rosen, Fred S.;
Geha, Raif

Publication type:

Article

Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 755

By:

Gaspar, Hubert B.;
Bradley, Linda A.D.;
Katz, Fay;
Lovering, Ruth C.;
Roifman, Chaim M.;
Morgan, Gareth;
Levinsky, Roland J.;
Kinnon, Christine

Publication type:

Article

Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 751

By:

Zhang, Chunfang;
Baumer, Alessandra;
Mackay, Ian R.;
Linnane, Anthony W.;
Nagley, Phillip

Publication type:

Article

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 747

By:

Morris, A.A.M.;
Taylor, R.W.;
Lightowlers, R.N.;
Aynsley-Green, A.;
Bartlett, K.;
Turnbull, D.M.

Publication type:

Article

A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 745

By:

Katsumata, Noriyuki;
Tanae, Ayako;
Yasunaga, Toru;
Horikawa, Reiko;
Tanaka, Toshiaki;
Hibi, Itsuro

Publication type:

Article

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 741

By:

Tomatsu, Shunji;
Fukuda, Seiji;
Cooper, Alan;
Wraith, James E.;
Rezvi, Golam Md. Maruf;
Yamagishi, Atsushi;
Yamada, Naoto;
Kato, Zenichiro;
Isogai, Koji;
Sukegawa, Kazuko;
Kondo, Naomi;
Suzuki, Yasuyuki;
Shimozawa, Nobuyuki;
Orii, Tadao

Publication type:

Article

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 731

By:

Miller, Andrew P.;
Gustashaw, Karen;
Wolff, Daynna J.;
Rider, Sue H.;
Monaco, Anthony P.;
Eble, Brian;
Schlessinger, David;
Gorski, Jerome L.;
van Ommen, Gert-Jan;
Weissenbach, Jean;
Willard, Huntington F.

Publication type:

Article

Sequence variability of a prolonged tetranucleotide repeat.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 727

By:

Liu, Yie;
Rasool, Omid;
Grandér, Dan;
Lindblom, Annika;
Einhorn, Stefan

Publication type:

Article

A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 717

By:

Chiannilkulchal, Nuchanard;
Pasturaud, Patricia;
Richard, Isabelle;
Auffray, Charles;
Beckmann, Jacques S.

Publication type:

Article

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 709

By:

Yamakawa, Kazuhiro;
Mitchell, Steve;
Hubert, René;
Chen, Xiao-Ning;
Colbern, Steve;
Huo, Yong-Kang;
Gadomski, Christopher;
Kim, Ung-Jin;
Korenberg, Julie R.

Publication type:

Article

Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 701

By:

Bächner, Dietmar;
Sedlacek, Zdenek;
Korn, Bernhard;
Hameister, Horst;
Poustka, Annemarie

Publication type:

Article

Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 693

By:

Jin, Hong;
Webster, A.D.B.;
Vihinen, Mauno;
Sideras, Paschalis;
Vorechovsky, lgor;
Hammarstróm, Lennart;
Bernatowska-Matuszkiewicz, Ewa;
Smith, C.I.E.;
Bobrow, Martin;
Vetrie, David

Publication type:

Article

Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 685

By:

Becker, Kavin G.;
Nagle, James W.;
Canning, Rachel D.;
Biddison, William E.;
Ozato, Keiko;
Drew, Paul D.

Publication type:

Article

Localization of craniosynostosis Adelaide type to 4p16.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 681

By:

Hollway, Georgina E.;
Phillips, Hilary A.;
Adès, Lesley C.;
Haan, Eric A.;
Mulley, John C.

Publication type:

Article

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 675

By:

Knebelmann, Bertrand;
Forestier, Lionel;
Drouot, Laurent;
Quinones, Susan;
Chuet, Christian;
Benessy, France;
Saus, Juan;
Antignac, Corinne

Publication type:

Article

Identification of a novel phospholipase C family gene at chromosome 2q33 that is homozygously deleted in human small cell lung carcinoma.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 667

By:

Kohno, Takashi;
Otsuka, Toshiyuki;
Takano, Hirokuni;
Yamamoto, Tadashi;
Hamaguchi, Masaaki;
Terada, Masaaki;
Yokota, Jun

Publication type:

Article

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 663

By:

Ueno, Shu-ichi;
Kondoh, Keiji;
Komure, Yasunori;
Komure, Osamu;
Kuno, Sadako;
Kawai, Jun;
Hazama, Fumitada;
Sano, Akira

Publication type:

Article

The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 657

By:

Wang, Yangxi;
Harvay, Clare B.;
Pratt, Wandy S.;
Sams, Virginia;
Sarner, Martin;
Rossi, Mauro;
Auricchio, Salvatore;
Swallow, Dallas M.

Publication type:

Article

Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 651

By:

Yamada, Shinji;
Tomatsu, Shunji;
Sly, William S.;
Islam, Rafigul;
Wenger, David A.;
Fukuda, Seiji;
Sukegawa, Kazuko;
Orii, Tadao

Publication type:

Article

Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 559

By:

Schrick, Jeffrey J.;
Onuchic, L.F.;
Reeders, S.T.;
Korenberg, J.;
Chen, X-N.;
Moyer, J.H.;
Wilkinson, J.E.;
Woychik, Richard

Publication type:

Article

Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 641

By:

Nicoletti, Aileen;
Wong, Deborah J.;
Kawase, Kazuhide;
Gibson, Lisa H.;
Yang-Feng, Teresa L.;
Richards, Julia E.;
Thompson, Debra A.

Publication type:

Article

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 631

By:

Rodrigues, N.R.;
Owen, N.;
Talbot, K.;
Ignatius, J.;
Dubowitz, V.;
Davies, K.E.

Publication type:

Article

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 623

By:

Kozich, Viktor;
Kraus, Eva;
de Franchis, Raffaella;
Fowler, Brian;
Boers, Godfried H.J.;
Graham, Ian;
Kraus, Jan P.

Publication type:

Article

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 615

By:

Bondeson, Maire-Louise;
Dahl, Niklas;
Malmgren, Helena;
Kleijer, Wim J.;
Tönnesen, Tönne;
Carlberg, Britt-Marie;
Pettersson, Ulf

Publication type:

Article

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 607

By:

Wang, Mei;
Price, Christopher E.;
Han, Jenny;
Cisler, Jason;
Imaizumi, Kiyoshi;
Van Thienen, Marie Neëlle;
Depaepe, Anne;
Godfrey, Maurice

Publication type:

Article

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 635

By:

Pignatti, Pier Franco;
Bombieri, Cristina;
Marigo, Cristina;
Benetazzo, Mariagiovanna;
Luisetti, Maurizio

Publication type:

Article

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 589

By:

Zhao, Zhaoyang;
Lee, Chang-Chi;
Jiralerspong, Sarn;
Juyal, Ramesh C.;
Lu, Fei;
Baldini, Antonio;
Greenberg, Frank;
Caskey, C. Thomas;
Patel, Pragna I.

Publication type:

Article

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 583

By:

Kotzot, Dieter;
Schmitt, Silke;
Bernasconi, Fabiana;
Robinson, Wendy P.;
Lurie, Iosif W.;
Ilyina, Helena;
Méhes, Károly;
Hamel, Ben C.J.;
Otten, Barto J.;
Hergersberg, Martin;
Werder, Edmond;
Schoenle, Eugen;
Schinzel, Albert

Publication type:

Article

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 575

By:

Burn, Timothy C.;
Connors, Timothy D.;
Dackowski, William R.;
Petry, Linda R.;
van Raay, Terence J.;
Millholland, John M.;
Venet, Marc;
Miller, Glenn;
Hakim, Ramond M.;
Landes, Gregory M.;
Kilnger, Katherine W.;
Qian, Feng;
Onuchic, Luiz F.;
Watnick, Terry;
Germino, Gregory G.;
Doggett, Norman A.

Publication type:

Article

Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 529

By:

Raap, A.K.;
van de Corput, M.P.C.;
Vervenne, R.A.M.;
van Gijlswijk, R.P.M.;
Tanke, H.J.;
Wiegant, J.

Publication type:

Article

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 599

By:

Wang, Jianzhou;
Pegoraro, Elena;
Menegazzo, Elisabetta;
Gennarelli, Massimo;
Hoop, Rita C.;
Angelini, Corrado;
Hoffman, Eric P.

Publication type:

Article

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 551

By:

Demczuk, S.;
Aledo, R.;
Zucman, J.;
Delattre, O.;
Desmaze, C.;
Dauphinot, L.;
Jalbert, P.;
Rouleau, G.A.;
Thomas, G.;
Aurias, A.

Publication type:

Article

Isolation and characterization of a novel gene deleted in DiGeorge syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 541

By:

Kurahashi, Hiroki;
Akagi, Kenzo;
Inazawa, Johji;
Ohta, Tohru;
Niikawa, Norio;
Kayatani, Futoshi;
Sano, Tetsuya;
Okada, Shintaro;
Nishisho, Isamu

Publication type:

Article

Evidence for two tumour suppressor loci on chromosomal bands 1p35–36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 535

By:

Caron, Huib;
Peter, Martine;
van Sluis, Peter;
Speleman, Frank;
de Kraker, Jan;
Laureys, Geneviève;
Michon, Jean;
Brugières, Laurence;
Voûte, P.A.;
Westerveld, Andries;
Slater, Rosalyn;
Delattre, Olivier;
Versteeg, Rogier

Publication type:

Article

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 569

By:

Peral, Belén;
Gamble, Vicki;
Millán, José L.;
Strong, Carol;
Sloane-Stanley, Jackie;
Moreno, Felipe;
Harris, Peter C.

Publication type:

Article

Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 523

By:

Kazemi-Esfarjani, Parsa;
Trifiro, Mark A.;
Pinsky, Leonard

Publication type:

Article

Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 515

By:

Shkolny, Dana L.;
Brown, Terry R.;
Punnett, Hope H.;
Kaufman, Morris;
Trifiro, Mark A.;
Pinsky, Leonard

Publication type:

Article

The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 507

By:

Sobell, Janet L.;
Lind, Tammy J.;
Sigurdson, D. Christine;
Zald, David H.;
Snitz, Beth E.;
Grove, William M.;
Heston, Leonard L.;
Sommer, Steve S.

Publication type:

Article

Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 501

By:

Lucassen, Anneke M.;
Screaton, Gavin R.;
Julier, Cecile;
Elliott, Tim J.;
Lathrop, Mark;
Bell, John I.

Publication type:

Article

Complex disease genetics gets more complex.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 4, p. 499
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 4, p. 781
Publication type:: Article

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 777

By:

Zhang, Zhi-Xin;
Wakamatsu, Nobuaki;
Akerman, Beverly R.;
Mules, Emily H.;
Thomas, George H.;
Gravel, Roy A.

Publication type:

Article

Rhodopsin mutation proline-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 775

By:

Macke, Jennifer P.;
Hennessey, Jill C.;
Nathans, Jeremy

Publication type:

Article