Volume 3; Issue 10

Main
Human Molecular Genetics
Volume 3; Issue 10

Human Molecular Genetics

Volume 3; Issue 10

1

Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17

Carey, Adam H., Waterworth, Dawn, Patel, Kirty, White, Davinia, Little, Julie, Novelli, Patricia, Franks, Stephen, Williamson, Robert

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 414 KB

english, 1994

2

RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer

Blaugrund, James E., Johns, Michael M., Eby, Yolanda J., Ball, Douglas W., Baylin, Stephen B., Hruban, Ralph H., Sidransky, David

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.96 MB

english, 1994

3

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene

Vincent, Christophe, Kalatzis, Vasiliki, Compain, Sylvie, Levilliers, Jacqueline, Slim, Rima, Graia, Fatima, Pereira, Maria de Lurdes, Nivelon, Annie, Croquette, Marie-France, Lacombe, Didier, Vignero

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.64 MB

english, 1994

4

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

Figlewicz, Denise A., Krizus, Aldis, Martinoli, Maria G., Meininger, Vincent, Dib, Michel, Rouleau, Guy A., Julien, Jean-Pierre

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.53 MB

english, 1994

5

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

Keating, Katherine E., Quane, Kathleen A., Manning, Bernadette M., Lehane, Mary, Hartung, Edmund, Censier, Kathrin, Urwyler, Albert, Klausnitzer, Monika, Muller, Clemens R., Heffron, James J.A., McCar

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.89 MB

english, 1994

6

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase

Conley, Mary Ellen, Fitch-Hilgenberg, Marjorie E., Cleveland, John L., Parolini, Ornella, Rohrer, Jurg

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.22 MB

english, 1994

7

A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient

Balassopoulou, Angeliki, Papadakis, Manos, Loukopoulos, Dimitris

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.03 MB

english, 1994

8

Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35

Jordan, S.A., Humphries, P.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 118 KB

english, 1994

9

Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients

Stella, A., Montera, M., Resta, N., Marchese, C., Susca, F., Gentile, M., Romio, L., Pilia, S., Prete, F., Mareni, C., Guanti, G.

Journal:

Human Molecular Genetics

Year:

1994

File:

PDF, 18 KB

1994

10

Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo

Lutz, Beat, Kuratani, Shigeru, Rugarli, Elena I., Wawersik, Stefan, Wong, Calvin, Bieber, Frederick R., Ballabio, Andrea, Eichele, Gregor

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.33 MB

english, 1994

11

Novel small mutations along the DMD/BMD gene associated with different phenotypes

Nigro, Vincenzo, Nigro, Giovanni, Esposito, Maria Grazia, Comi, Lucia Ines, Molinari, Anna Maria, Puca, Giovanni Alfredo, Politano, Luisa

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 194 KB

english, 1994

12

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

Baudoin, Christian, Miquel, Corinne, Gagnoux-Palacios, Laurent, Pulkkinen, Leena, Christiano, Angela M., Uitto, Jouni, Tadini, Gianluca, Ortonne, Jean-Paul, Meneguzzl, Guerrino

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.85 MB

english, 1994

13

Structural and mutational analysis of the xeroderma pigmentosum group D ( XPD ) gene

Frederick, Gregory D., Amirkhan, Robin H., Schultz, Roger A., Friedberg, Errol C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.26 MB

english, 1994

14

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia

Hagemann, Tracy L., Chen, Yuexin, Rosen, Fred S., Kwan, Sau-Ping

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 667 KB

english, 1994

15

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

Green, Andrew J., Johnson, Philip H., Yates, John R.W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.62 MB

english, 1994

16

Identification of two mutant alleles of transcobalamin II in an affected family

Li, Ning, Rosenblatt, David S., Kamen, Barton A., Seetharam, Shakuntla, Seetharam, Bellur

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.21 MB

english, 1994

17

Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci

Jones, M.H., Sato, T., Saito, H., Tanigami, A., Nakamura, Y.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 99 KB

english, 1994

18

Identification of a new frameshift mutation (1801delAG) in the ALD gene

Barceló, A., Girós, M., Sarde, C.O., Martínez-Bermejo, A., Mandel, J.L., Pámpols, T., Estivill, X.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 160 KB

english, 1994

19

A transcript map of the Down syndrome critical region on chromosome 21

Peterson, Andrew, Patil, Nila, Robbins, Carolyn, Wang, Lisa, Cox, David R., Myers, Richard M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 6.84 MB

english, 1994

20

A Bg /II polymorphism in the COL4A6 gene

Renieri, A., Galli, L., Zhou, J., Ballabio, A., Marchi, M. De

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

21

MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p

Ueki, Keisuke, Rubio, Mari-Paz, Ramesh, Vijaya, Correa, Katia M., Rutter, Joni L., Deimling, Andreas von, Buckler, Alan J., Gusella, James F., Louis, David N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.03 MB

english, 1994

22

Author index

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 82 KB

english, 1994

23

High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q

Bengtsson, Ulla, Altherr, Michael R., Wasmuth, John J., Winokur, Sara T.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.53 MB

english, 1994

24

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Hentati, Afif, Pericak-Vance, Margaret A., Lennon, Felicia, Wasserman, Brad, Hentati, Faycal, Juneja, Tony, Angrist, Misha H., Hung, Wu-Yen, Boustany, Rose-Mary, Bohlega, Saeed, Iqbal, Zafar, Huether,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 421 KB

english, 1994

25

Sequence organization of the human chromosome 2q telomere

Macina, Roberto A., Negorev, Dmitri G., Spais, Chrysanthe, Ruthig, Lisa A., Hu, Xue-Lan, Riethman, Harold C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.72 MB

english, 1994

26

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

Carbonara, Caterina, Longa, Lucia, Grosso, Enrico, Borrone, Carla, Garré, Maria Grazia, Brisigotti, Massimo, Migone, Nicola

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.19 MB

english, 1994

27

Tetranucleotide repeat polymorphism at the D8S492 locus

Ward, K., Nelson, L., Lu, J., Petterson, M., Fillmore, K., Riley, R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 95 KB

english, 1994

28

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Lind, Lisbet, Lundström, Anita, Hofer, Per-Åke, Holmgren, Gösta

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.98 MB

english, 1994

29

The same polymorphism identified by the DXS571(B) and DXS1105 loci

Barker, D.F., Cordray, P., Fain, P.R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 95 KB

english, 1994

30

Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B 6 nonresponsive homocystinuria

Marble, Michael, Geraghty, Michael T., de Franchis, Raffaella, Kraus, Jan P., Vailed, David

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 543 KB

english, 1994

31

Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform

Rafael, Jill A., Sunada, Yoshihide, Cole, Neil M., Campbell, Kevin P., Faulkner, John A., Chamberlain, Jeffrey S.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 7.25 MB

english, 1994

32

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene

Eng, Christine M., Niehaus, Dana J., Enriquez, Annette L., Burgert, Tania S., Ludman, Mark D., Desnick, RobertJ.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.73 MB

english, 1994

33

Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP

Lau, C.C., Mok, S.C., Kelley, A., Cramer, D.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 116 KB

english, 1994

34

Haplotype analysis of MEN 2 mutations

Gardner, Emily, Mulligan, Lois M., Eng, Charis, Healey, Catherine S., Kwok, John B.J., Ponder, Margaret A., Ponder, Bruce A.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 314 KB

english, 1994

35

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

Gabriel, J., Gottlieb, W., Garcia, A., Rogan, P.K., Saitoh, S., Nicholls, R.D.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 89 KB

english, 1994

36

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

Winterpacht, Andreas, Schwarze, Ulrike, Mundlos, Stefan, Menger, Hartmut, Spranger, Jürgen, Zabel, Bernhard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.06 MB

english, 1994

37

The phospholipase C β3 gene located in the MEN1 region shows loss of expression in endocrine tumours

Weber, Günther, Friedman, Eitan, Grimmond, Sean, Hayward, Nicholas K., Phelan, Catherine, Skogseid, Britt, Gobl, Anders, Zedenius, Jan, Sandelin, Kerstin, Teh, Bin Tean, Carson, Emma, White, Irene, Öb

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.91 MB

english, 1994

38

A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21

Patil, Nila, Peterson, Andrew, Rothman, Alana, Jong, Pieter J.de, Myers, Richard M., Cox, David R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.44 MB

english, 1994

39

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV

Richards, Allan J., Narcisi, Paolo, Ferguson, Carole, Cobben, Jan M., Pope, F.Michael

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.60 MB

english, 1994

40

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

Fuchs, Sigrid, Sarde, Claude Olivier, Wedemann, Heike, Schwinger, Eberhard, Mandel, Jean Louis, Gal, Andreas

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.45 MB

english, 1994

41

A heat shock gene at 14q22: mapping and expression

Roux, Anne-Françoise, Nguyen, T.T. Van, Squire, Jeremy A., Cox, Diane W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.42 MB

english, 1994

42

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families

Zhu, Qili, Zhang, Min, Winkelstein, Jerry, Chen, Shi-Han, Ochs, Hans D.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 207 KB

english, 1994

43

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes

Ouweland, Ans M.W. van den, Deelen, Wout H., Kunst, Catherine B., Uzielli, Maria-Luisa Giovannucci, Nelson, David L., Warren, Stephen T., Oostra, Ben A., Halley, Dicky J.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.43 MB

english, 1994

44

Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria

Fujita, Hiroyoshi, Kondo, Masao, Taketani, Shigeru, Nomura, Nakao, Furuyama, Kazumichi, Akagi, Relko, Nagai, Tadashi, Terajima, Masanori, Galbraith, Richard A., Sassa, Shigeru

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.22 MB

english, 1994

45

Polymorphism of the HLA-90 new class I gene

Legras, C., Alizadeh, M., Fauchet, R., Genetet, B., Semana, G.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 116 KB

english, 1994

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски