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Showing 51–100 of 10377 results

Advanced filters: Author: C. Genet Clear advanced filters

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

Siobhán A. Jordan
G. Jane Farrar
Peter Humphries
Research01 May 1993
Nature Genetics

Volume: 4, P: 54-58
Functional equivalence of human X– and Y–encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome

Minoru Watanabe
Andrew R. Zinn
Takeharu Nishimoto
Research01 Jul 1993
Nature Genetics

Volume: 4, P: 268-271
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Quan Yi Li
Ruth A. Newbury-Ecob
J. David Brook
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 21-29
Formation and resolution of recombination intermediates by E. coliRecA and RuvC proteins

Hazel J. Dunderdale
Fiona E. Benson
Stephen C. West
Research26 Dec 1991
Nature

Volume: 354, P: 506-510
The human PAX6 gene is mutated in two patients with aniridia

Tim Jordan
Isabel Hanson
Veronica van Heyningen
Research01 Aug 1992
Nature Genetics

Volume: 1, P: 328-332
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Georges Imbert
Frédéric Saudou
Alexis Brice
Research01 Nov 1996
Nature Genetics

Volume: 14, P: 285-291
Localization of a gene for partial epilepsy to chromosome 10q

Ruth Ottman
Neil Risch
Kirk C. Wilhelmsen
Research01 May 1995
Nature Genetics

Volume: 10, P: 56-60
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Phillip T. Brook-Carter
Belén Peral
Julian R. Sampson
Research01 Dec 1994
Nature Genetics

Volume: 8, P: 328-332
Somatic overgrowth associated with overexpression of insulin–like growth factor II

Ian M. Morison
David M. Becroft
Anthony E. Reeve
Research01 Mar 1996
Nature Medicine

Volume: 2, P: 311-316
Instability of short tandem repeats (microsatellites) in human cancers

R. Wooster
A.-M. Cleton-Jansen
M.R. Stratton
Research01 Feb 1994
Nature Genetics

Volume: 6, P: 152-156
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12

Elizabeth C. Engle
Louis M. Kunkel
Alan H. Beggs
Research01 May 1994
Nature Genetics

Volume: 7, P: 69-73
A mouse model for Prader-Willi syndrome imprinting-centre mutations

Tao Yang
Todd E. Adamson
Camilynn I. Brannan
Research01 May 1998
Nature Genetics

Volume: 19, P: 25-31
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

B. Fontaine
J. Vale-Santos
F. Lehmann-Horn
Research01 Mar 1994
Nature Genetics

Volume: 6, P: 267-272
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

D. Torchard
C. Blanchet-Bardon
J. Feunteun
Research01 Jan 1994
Nature Genetics

Volume: 6, P: 106-110
Rapid detection of BRCA1 mutations by the protein truncation test

Frans B.L. Hogervorst
Renée S. Cornelis
Gert-Jan B. van Ommen
Research01 Jun 1995
Nature Genetics

Volume: 10, P: 208-212
Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

Benjamin B. Roa
Carlos A. Garcia
James R. Lupski
Research01 Oct 1993
Nature Genetics

Volume: 5, P: 189-194
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Gilles David
Nacer Abbas
Alexis Brice
Research01 Sept 1997
Nature Genetics

Volume: 17, P: 65-70
Microsatellite evolution — evidence for directionality and variation in rate between species

David C. Rubinsztein
William Amos
Malcolm A. Ferguson-Smith
Research01 Jul 1995
Nature Genetics

Volume: 10, P: 337-343
Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

Albert de la Chapelle
Ritva Tolvanen
Juha Kere
Research01 Oct 1992
Nature Genetics

Volume: 2, P: 157-160
Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy

Atsushi Nagano
Ritsuko Koga
Kiichi Arahata
Research01 Mar 1996
Nature Genetics

Volume: 12, P: 254-259
Evidence of founder chromosomes in fragile X syndrome

R.I. Richards
K. Holman
G.R. Sutherland
Research01 Jul 1992
Nature Genetics

Volume: 1, P: 257-260
Three autosomal dominant corneal dystrophies map to chromosome 5q

Edwin M. Stone
William D. Mathers
Val C. Sheffield
Research01 Jan 1994
Nature Genetics

Volume: 6, P: 47-51
The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

V. Timmerman
E. Nelis
C. Van Broeckhoven
Research01 Jun 1992
Nature Genetics

Volume: 1, P: 171-175
Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene

B. Glaser
K.C. Chiu
M.A. Permutt
Research01 Jun 1994
Nature Genetics

Volume: 7, P: 185-188
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

A. Kamb
D. Shattuck-Eidens
L. A. Cannon-Albright
Research01 Sept 1994
Nature Genetics

Volume: 8, P: 22-26
A genome-wide search for human type 1 diabetes susceptibility genes

June L. Davies
Yoshihiko Kawaguchi
John A. Todd
Research08 Sept 1994
Nature

Volume: 371, P: 130-136
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Nathaniel H. Robin
George J. Feldman
Maximilian Muenke
Research01 Dec 1995
Nature Genetics

Volume: 11, P: 459-461
Somatic genetic drift and multilevel selection in a clonal seagrass

The accumulation of somatic genetic variation in clonal species leads to heterogeneity among autonomous modules (ramets). Ultra-deep resequencing of single ramets in a clonal seagrass shows somatic genetic drift resulting in genetically differentiated ramets that are targets of selection.

Lei Yu
Christoffer Boström
Thorsten B. H. Reusch
Research11 May 2020
Nature Ecology & Evolution

Volume: 4, P: 952-962
Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Evan E. Eichler
Jeanette J.A. Holden
David L. Nelson
Research01 Sept 1994
Nature Genetics

Volume: 8, P: 88-94
Long–range mapping of gaps and telomeres with RecA–assisted restriction endonuclease (RARE) cleavage

Lance J. Ferrin
R. Daniel Camerini-Otero
Research01 Apr 1994
Nature Genetics

Volume: 6, P: 379-383
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p

Chris F. Inglehearn
Simon A. Carter
Shomi S. Bhattacharya
Research01 May 1993
Nature Genetics

Volume: 4, P: 51-53
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

Jeffrey C. Murray
Steven R. Bennett
Kenneth H. Buetow
Research01 Sept 1992
Nature Genetics

Volume: 2, P: 46-49
Structure of Heterochromatin

G. PONTECORVO
Research25 Mar 1944
Nature

Volume: 153, P: 365-367
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

Elena V. Semina
Rebecca Reiter
Jeffrey C. Murray
Research01 Dec 1996
Nature Genetics

Volume: 14, P: 392-399
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Jocelyn Laporte
Ling Jia Hu
Niklas Dahl
Research01 Jun 1996
Nature Genetics

Volume: 13, P: 175-182
Carbon Compounds in Apollo 11 Lunar Samples

BARTHOLOMEW NAGY
WARD M. SCOTT
HAROLD C. UREY
Research14 Mar 1970
Nature

Volume: 225, P: 1028-1032
Messenger RNA from human brain induces drug- and voltage-operated channels in Xenopus oocytes

C. B. Gundersen
R. Miledi
I. Parker
Research29 Mar 1984
Nature

Volume: 308, P: 421-424
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus

S.T. Bennett
A.M. Lucassen
J.A. Todd
Research01 Mar 1995
Nature Genetics

Volume: 9, P: 284-292
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

Scott W. Ballinger
John M. Shoffner
Douglas C. Wallace
Research01 Apr 1992
Nature Genetics

Volume: 1, P: 11-15
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families

J. Simard
P. Tonin
S.A. Narod
Research01 Dec 1994
Nature Genetics

Volume: 8, P: 392-398
Nature, nurture and psychodarwinism

Thomas Vorup Jensen
Correspondence17 Feb 1994
Nature

Volume: 367, P: 591
Correlation between segmental mobility and the location of antigenic determinants in proteins

E. Westhof
D. Altschuh
M. H. V. Van Regenmortel
Research13 Sept 1984
Nature

Volume: 311, P: 123-126
Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3

W.R. McCombie
A. Martin-Gallardo
J.C. Venter
Research01 Aug 1992
Nature Genetics

Volume: 1, P: 348-353
A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome

Margaret L. Delbridge
Jenny L. Harry
Jennifer A. Marshall Graves
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 131-136
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

Lucio H. Castilla
Fergus J. Couch
Barbara L. Weber
Research01 Dec 1994
Nature Genetics

Volume: 8, P: 387-391
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard
William A. Paznekas
Ethylin Wang Jabs
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 36-41
Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda
Abdel G. Elkahloun
Settara C. Chandrasekharappa
Research01 Jul 1997
Nature Genetics

Volume: 16, P: 235-242
Natural variation in light sensitivity of Arabidopsis

Julin N. Maloof
Justin O. Borevitz
Joanne Chory
Research26 Nov 2001
Nature Genetics

Volume: 29, P: 441-446
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Maria T. Bassi
M. Vittoria Schiaffino
Andrea Ballabio
Research01 May 1995
Nature Genetics

Volume: 10, P: 13-19
Chromosome Maps of Saccharomyces

CARL C. LINDEGREN
GERTRUDE LINDEGREN
SHARON DESBOROUGH
Research21 Mar 1959
Nature

Volume: 183, P: 800-802

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