Volume 102; Issue 1

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Human Genetics
Volume 102; Issue 1

Human Genetics

Volume 102; Issue 1

1

A novel point mutation in an acceptor splice site of intron 32 (IVS32 A–12→G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb

M. Okubo, Asako Horinishi, Norimasa Nakamura, Yoshiko Aoyama, Masaji Hashimoto, Yuzo Endo, Toshio Murase

Journal:

Year:

1998

Language:

english

File:

PDF, 59 KB

english, 1998

2

Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status

Josepha Yeshaya, Ruth Shalgi, Mordechai Shohat, L. Avivi

Journal:

Year:

1998

Language:

english

File:

PDF, 183 KB

english, 1998

3

Characterization ofMLH1andMSH2alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

Maurizio Genuardi, Alessandra Viel, Daniela Bonora, Eugenia Capozzi, Alfonso Bellacosa, Francesca Leonardi, Roberta Valle, Andrea Ventura, Monica Pedroni, Mauro Boiocchi, G. Neri

Journal:

Year:

1998

Language:

english

File:

PDF, 114 KB

english, 1998

4

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21–p22.1 and identification of novel mutations in Stargardt’s disease

Igor Nasonkin, Michelle Illing, Michael R. Koehler, Michael Schmid, Robert S. Molday, B. H. F. Weber

Journal:

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

5

Polymorphism of theHLAclass II loci in Siberian populations

Blazenka Grahovac, R. I. Sukernik, C. O’hUigin, Zofia Zaleska-Rutczynska, Nadezhda Blagitko, Olga Raldugina, Tanja Kosutic, Yoko Satta, Felipe Figueroa, Naoyuki Takahata, Jan Klein

Journal:

Year:

1998

Language:

english

File:

PDF, 129 KB

english, 1998

6

Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia

T. P. Leren, Kari S. Bakken, Vigdis Hoel, Ingvar Hjermann, Kåre Berg

Journal:

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

7

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

Stefano Regis, Mirella Filocamo, Marina Stroppiano, Fabio Corsolini, Francesco Caroli, R. Gatti

Journal:

Year:

1998

Language:

english

File:

PDF, 57 KB

english, 1998

8

IncompleteEcoRI digestion may lead to false diagnosis of fragile X syndrome

Katrien Storm, Ingrid Handig, Edwin Reyniers, B. A. Oostra, R. Frank Kooy, P. J. Willems

Journal:

Year:

1998

Language:

english

File:

PDF, 36 KB

english, 1998

9

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene

N. Zhong, Krystyna E. Wisniewski, Alexandra L. Kaczmarski, Weina Ju, Wei Min Xu, William W. Xu, Lucilla Mclendon, B. Liu, Wojciech Kaczmarski, Susan Sklower Brooks, W. Ted Brown

Journal:

Year:

1998

Language:

english

File:

PDF, 116 KB

english, 1998

10

Cloning and tissue expression of cDNAs from chromosome 5q21–22 which is frequently deleted in advanced lung cancer

Kiyonobu Ueno, Toru Kumagai, Takashi Kijima, Tadamitsu Kishimoto, S. Hosoe

Journal:

Year:

1998

Language:

english

File:

PDF, 123 KB

english, 1998

11

Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

R. Vervoort, Richard Gitzelmann, Nils Bosshard, Irène Maire, Inge Liebaers, W. Lissens

Journal:

Year:

1998

Language:

english

File:

PDF, 151 KB

english, 1998

12

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method

M. Votruba, Anthony T. Moore, Shomi S. Bhattacharya

Journal:

Year:

1998

Language:

english

File:

PDF, 71 KB

english, 1998

13

Absence of human placental lactogen and placental growth hormone (HGH-V) during pregnancy: PCR analysis of the deletion

K. Rygaard, Agnès Revol, Dolores Esquivel-Escobedo, Bjarne L. Beck, H. A. Barrera-Saldaña

Journal:

Year:

1998

Language:

english

File:

PDF, 69 KB

english, 1998

14

Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

W. H. Raskind, Tamara Bolin, John Wolff, John Fink, Mark Matsushita, Michael Litt, Hillary Lipe, Thomas D. Bird

Journal:

Year:

1998

Language:

english

File:

PDF, 73 KB

english, 1998

15

Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies

Bruno Delobel, Ratib Djlelati, Odette Gabriel-Robez, Marie-Françoise Croquette, Roselyne Rousseaux-Prévost, Jean Rousseaux, Jean-Marc Rigot, Y. Rumpler

Journal:

Year:

1998

Language:

english

File:

PDF, 285 KB

english, 1998

16

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3–q25.2 and mutation analysis

Karin G. Michels-Rautenstrauss, Christian Y. Mardin, Wido M. Budde, Thomas Liehr, J. Polansky, Thai Nguyen, Vincent Timmerman, C. Van Broeckhoven, Gottfried O. H. Naumann, Rudolf A. Pfeiffer, B. W. Ra

Journal:

Year:

1998

Language:

english

File:

PDF, 132 KB

english, 1998

17

Subfamilies and nearest-neighbour dendrogram for the LTRs of human endogenous retroviruses HERV-K mapped on human chromosome 19: physical neighbourhood does not correlate with identity level

I. Lavrentieva, P. Khil, T. Vinogradova, A. Akhmedov, A. Lapuk, O. Shakhova, Y. Lebedev, G. Monastyrskaya, E. D. Sverdlov

Journal:

Year:

1998

Language:

english

File:

PDF, 264 KB

english, 1998

18

Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions

C. M. Conn, Joyce C. Harper, Robert M. L. Winston, Joy D. A. Delhanty

Journal:

Year:

1998

Language:

english

File:

PDF, 106 KB

english, 1998

19

Gene symbol: PKD1 Disease: Polycystic kidney disease

C. Daniells, M. Maheshwar, L. Lazarou, F. Davies, G. Coles, D. Ravine

Journal:

Year:

1998

Language:

english

File:

PDF, 4 KB

english, 1998