books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 4; Issue 8
Main
Human Molecular Genetics
Volume 4; Issue 8
Human Molecular Genetics
Volume 4; Issue 8
1
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
Rafi, Mohammad A.
,
Luzi, Paola
,
Chen, Yue Qun
,
Wenger, David A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.35 MB
Your tags:
english, 1995
2
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
Parmentier, Laurent
,
Blanchet-Bardon, Claudine
,
Nguyen, Simon
,
Prud'homme, Jean-François
,
Dubertret, Louis
,
Weissenbach, Jean
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.08 MB
Your tags:
english, 1995
3
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs
Wirth, B.
,
Hahnen, E.
,
Morgan, K.
,
DiDonato, C.J.
,
Dadze, A.
,
Rudnik-Schöneborn, S.
,
Simard, L.R.
,
Zerres, K.
,
Burghes, A.H.M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 5.68 MB
Your tags:
english, 1995
4
Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
Phelps, Stephanie F.
,
Hauser, Michael A.
,
Cole, Neil M.
,
Rafael, Jill A.
,
Hinkle, Richard T.
,
Faulkner, John A.
,
Chamberlain, Jeffrey S.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.51 MB
Your tags:
english, 1995
5
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
Bitner-Glindzicz, Maria
,
Turnpenny, Peter
,
Höglund, Pia
,
Kääriäinen, Helena
,
Sankila, Eeva-Marja
,
van der Maarel, Sylvere M.
,
de Kok, Yvette J.M.
,
Ropers, Hans-Hilger
,
Cremers, Frans P.M.
,
Pembrey, Ma
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.21 MB
Your tags:
english, 1995
6
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome
Gorry, Michael C.
,
Preston, Robert A.
,
White, Gregory J.
,
Zhang, Yingze
,
Singhal, Virender K.
,
Losken, H.Wolgang
,
Parker, Michael G.
,
Nwokoro, Ngozi A.
,
Post, J.Christopher
,
Ehrlich, Garth D.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.82 MB
Your tags:
english, 1995
7
Myotonia levior is a chloride channel disorder
Lehmann-Horn, Frank
,
Mailänder, Volker
,
Heine, Roland
,
George, Alfred L.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.78 MB
Your tags:
english, 1995
8
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
Laue, Louisa
,
Wu, Shao-Ming
,
Kudo, Masataka
,
Hsueh, Aaron J.W.
,
Cutler, Gordon B.
,
Griffin, James E.
,
Wilson, Jean D.
,
Brain, Caroline
,
Berry, A.Caroline
,
Grant, David B.
,
Chan, Wai-Yee
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.77 MB
Your tags:
english, 1995
9
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
Sarfarazi, Mansoor
,
Akarsu, A.Nurten
,
Sayli, Bekir Sitki
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.84 MB
Your tags:
english, 1995
10
Friedreich's ataxia: a defect in signal transduction?
Carvajal, Jaime J.
,
Pook, Mark A.
,
Doudney, Kit
,
Hillermann, Renate
,
Wilkes, David
,
Al-Mahdawi, Sahar
,
Williamson, Robert
,
Chamberlain, Susan
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.55 MB
Your tags:
english, 1995
11
Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries
Lee, Cheng Chi
,
Yazdani, Ali
,
Wehnert, Manfred
,
Zhao, ZhaoYang
,
Lindsay, Elizabeth A.
,
Bailey, Jennifer
,
Coolbaugh, Mary I.
,
Couch, Lisa
,
Xiong, Mengli
,
Chinault, A.Craig
,
Baldini, Antonio
,
Caskey, C.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.25 MB
Your tags:
english, 1995
12
Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy
Wells, Dominic J.
,
Wells, Kim E.
,
Asante, Emmanuel A.
,
Turner, Gaynor
,
Sunada, Yoshihide
,
Campbell, Kevin P.
,
Walsh, Frank S.
,
Dickson, George
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 6.76 MB
Your tags:
english, 1995
13
Characterization of the 5' region of the Fanconi anaemia group C ( FACC ) gene
Savoia, Anna
,
Centra, Marta
,
lanzano, Leonarda
,
de Cillis, Gian Pio
,
Zelante, Leopoldo
,
Buchwald, Manuel
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.77 MB
Your tags:
english, 1995
14
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
Turco, Alberto E.
,
Rossetti, Sandro
,
Bresin, Elena
,
Corra, Stefano
,
Gammaro, Linda
,
Maschio, Giuseppe
,
Pignatti, Pier Franco
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.85 MB
Your tags:
english, 1995
15
Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3
Cruts, Marc
,
Backhovens, Hubert
,
Theuns, Jessie
,
Clark, Robert F.
,
Le Paslier, Denis
,
Weissenbach, Jean
,
Goate, Alison M.
,
Martin, Jean-Jaques
,
Van Broeckhoven, Christine
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 1.56 MB
Your tags:
english, 1995
16
Author index
Journal:
Human Molecular Genetics
Year:
1995
File:
PDF, 498 KB
Your tags:
1995
17
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome
Lucente, D.
,
Chen, H.M.
,
Shea, D.
,
Samec, S.N.
,
Rutter, M.
,
Chrast, R.
,
Rossier, C.
,
Buckler, A.
,
Antonarakis, S.E.
,
McCormick, M.K.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.99 MB
Your tags:
english, 1995
18
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene
Tiranti, Valeria
,
Chariot, Patrick
,
Carella, Francesco
,
Toscano, Antonio
,
Soliveri, Paola
,
Girlanda, Paolo
,
Carrara, Franco
,
Fratta, Giovanni Matteo
,
Reid, Fiona M.
,
Mariotti, Caterina
,
Zeviani, Massi
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.19 MB
Your tags:
english, 1995
19
Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries
Yaspo, Marie-Laure
,
Gellen, Lisa
,
Mott, Richard
,
Korn, Bernhard
,
Nizetic, Dean
,
Poustka, AnneMarie
,
Lehrach, Hans
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 10.96 MB
Your tags:
english, 1995
20
A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14
Geisen, Caroline
,
Delius, Hajo
,
Lichter, Peter
,
Kahn, Tomas
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.93 MB
Your tags:
english, 1995
21
A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin
Hansen, Lars
,
Hansen, Torben
,
Vestergaard, Henrik
,
Bjørbæk, Christian
,
Echwald, Søren M.
,
Clausen, Jesper O.
,
Chen, Yu Hua
,
Chen, Mao Xiang
,
Cohen, Patricia T.W.
,
Pedersen, Oluf
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.49 MB
Your tags:
english, 1995
22
Comparison of the positional cloning methods used to isolate the BRCA1 gene
Harshman, Keith
,
Bell, Russell
,
Rosenthal, Judith
,
Katcher, Harold
,
MlKl, Yoshio
,
Swenson, Jeff
,
Gholami, Zahra
,
Frye, Cheryl
,
Ding, Wei
,
Dayananth, Priya
,
Eddington, Ken
,
Norris, Franklin H.
,
Bristow
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 740 KB
Your tags:
english, 1995
23
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q
Bardienb, Soraya
,
Ebenezer, Neil
,
Greenberg, Jacquie
,
Inglehearn, Chris F.
,
Bartmann, Lecia
,
Goliath, Rene
,
Beighton, Peter
,
Ramesar, Rajkumar
,
Bhattacharya, Shomi S.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 365 KB
Your tags:
english, 1995
24
A de novo frame-shift mutation in the tuberin gene
Kumar, A.
,
Wolpert, C.
,
Kandt, R.S.
,
Segal, J.
,
Pufky, J.
,
Roses, A.D.
,
Pericak-Vance, M.A.
,
Gilbert, J.R.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 987 KB
Your tags:
english, 1995
25
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
Holmberg, Monica
,
Johansson, Jenni
,
Forsgren, Lars
,
Heijbel, Jan
,
Sandgren, Ola
,
Holmgren, Gösta
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 461 KB
Your tags:
english, 1995
26
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
Attié, Tania
,
Pelet, Anna
,
Edery, Patrick
,
Eng, Charis
,
Mulligan, Lois M.
,
Amiel, Jeanne
,
Boutrand, Laetitia
,
Beldjord, Chérif
,
Nihoul-Fékété, Claire
,
Munnich, Arnold
,
Ponder, Bruce A.J.
,
Lyonnet, Sta
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 637 KB
Your tags:
english, 1995
27
Expression of the Huntington's disease (IT15) protein product in HD patients
Schilling, Gabrlele
,
Sharp, Alan H.
,
Loev, Scott J.
,
Wagster, Molly V.
,
Li, Shi-Hua
,
Stine, O.Colin
,
Ross, Christopher A.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 4.05 MB
Your tags:
english, 1995
28
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1
Hoffmeyer, Sven
,
Assum, Günter
,
Griesser, Johann
,
Kaufmann, Dieter
,
Nurnberg, Peter
,
Krone, Winfrid
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.73 MB
Your tags:
english, 1995
29
A gene for Leber's congenital amaurosis maps to chromosome 17p
Camuzat, Agnès
,
Dollfus, Hélène
,
Rozet, Jean-Michel
,
Gerber, Sylvie
,
Bonneau, Dominique
,
Bonnemaison, Michèle
,
Briard, Marie-Louise
,
Dufier, Jean-Louis
,
Ghazi, Imad
,
Leowski, Corinne
,
Weissenbach, Jea
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 519 KB
Your tags:
english, 1995
30
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene
Varon, Raymonda
,
Magdorf, Klaus
,
Staab, Doris
,
Wahn, Hans-Ulrich
,
Krawczak, Michael
,
Sperling, Karl
,
Reis, André
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 219 KB
Your tags:
english, 1995
31
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM
May, Melanie
,
Colleaux, Laurence
,
Murgia, Alessandra
,
Aylsworth, Arthur
,
Nussbaum, Robert
,
Fontes, Michel
,
Schwartz, Charles
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 225 KB
Your tags:
english, 1995
32
A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3
Clark, Robert F.
,
Cruts, Marc
,
Korenblat, Kevin M.
,
He, Chengshi
,
Talbot, Christopher
,
Van Broeckhoven, Christine
,
Goate, Alison M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.13 MB
Your tags:
english, 1995
33
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
Héon, Elise
,
Sheth, Bhavna P.
,
Kalenak, Jeffrey W.
,
Sunden, Sara L.F.
,
Streb, Luan M.
,
Taylor, Chris M.
,
Alward, Wallace L.M.
,
C.Sheffield, Val
,
Stone, Edwin M.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 3.15 MB
Your tags:
english, 1995
34
Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members
van Ree, Janine H.
,
van den Broek, Walther J.J.A.
,
van der Zee, André
,
Dahlmans, Vivian E.H.
,
Wieringa, Bé
,
Frants, Rune R.
,
Havekes, Louis M.
,
Hofker, Marten H.
Journal:
Human Molecular Genetics
Year:
1995
Language:
english
File:
PDF, 2.27 MB
Your tags:
english, 1995
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×