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Showing 101–150 of 10492 results

Advanced filters: Author: D Genet Clear advanced filters

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

Anita Schuchardt
Vivette D'Agati
Vassilis Pachnis
Research27 Jan 1994
Nature

Volume: 367, P: 380-383
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett
Benjamin Glaser
Eric D. Green
Research01 Dec 1997
Nature Genetics

Volume: 17, P: 411-422
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak
Vasiliki Kalatzis
Christine Petit
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 157-164
The origin of the major cystic fibrosis mutation (ΔF508) in European populations

N. Morral
J. Bertranpetit
L. Kadasi
Research01 Jun 1994
Nature Genetics

Volume: 7, P: 169-175
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics

Masayoshi Tachibana
Kazuhisa Takeda
Toru Miki
Research01 Sept 1996
Nature Genetics

Volume: 14, P: 50-54
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Brunella Franco
Silvana Guioli
Andrea Ballabio
Research10 Oct 1991
Nature

Volume: 353, P: 529-536
A genetic linkage map of the bovine genome

W. Barendse
S.M. Armitage
D.J.S. Hetzel
Research01 Mar 1994
Nature Genetics

Volume: 6, P: 227-235
Neocentromere activity of structurally acentric mini-chromosomes in Drosophila

Byron C. Williams
Terence D. Murphy
Gary H. Karpen
Research01 Jan 1998
Nature Genetics

Volume: 18, P: 30-38
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes

Blake C Ballif
Catherine D Kashork
Lisa G Shaffer
Research03 Oct 2000
European Journal of Human Genetics

Volume: 8, P: 764-770
Tripartite structure of the Brassica campestris mitochondrial genome

Jeffrey D. Palmer
Clark R. Shields
Research02 Feb 1984
Nature

Volume: 307, P: 437-440
DNA methylation cooperates with genomic alterations during non-small cell lung cancer evolution

Integrated multi-omic analyses using samples from the TRACERx study highlight cross-talk between DNA hypermethylation and genomic lesions in non-small cell lung cancer.

Francisco Gimeno-Valiente
Carla Castignani
Nnennaya Kanu
ResearchOpen Access10 Sept 2025
Nature Genetics

Volume: 57, P: 2226-2237
A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

J.N. Feder
A. Gnirke
R.K. Wolff
Research01 Aug 1996
Nature Genetics

Volume: 13, P: 399-408
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice

Gert Jansen
Patricia J.T.A. Groenen
Bé Wieringa
Research01 Jul 1996
Nature Genetics

Volume: 13, P: 316-324
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

J. Andrew Keightley
Kristen C. Hoffbuhr
Nancy G. Kennaway
Research01 Apr 1996
Nature Genetics

Volume: 12, P: 410-416
The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus

D. P. Barlow
R. Stöger
N. Schweifer
Research03 Jan 1991
Nature

Volume: 349, P: 84-87
Reef site and habitat influence effectiveness of Acropora palmata restoration and its microbiome in the Florida Keys

Habitat factors such as current velocity and water depth play a key role in the survivorship of the endangered coral Acropora palmata and its microbiome, according to surveys at coral restoration sites.

Stephanie M. Rosales
Benjamin D. Young
Dana E. Williams
ResearchOpen Access11 Nov 2024
Communications Earth & Environment

Volume: 5, P: 1-13
A human pseudoautosomal gene, ADP/ATP translocase, escapes X–inactivation whereas a homologue on Xq is subject to X–inactivation

Katrin Schiebel
Birgit Weiss
Gudrun Rappold
Research01 Jan 1993
Nature Genetics

Volume: 3, P: 82-87
A radiation hybrid map of 506 STS markers spanning human chromosome 11

M.R. James
C.W. Richard III
G.M. Lathrop
Research01 Sept 1994
Nature Genetics

Volume: 8, P: 70-76
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Didier Devys
Yves Lutz
Jean-Louis Mandel
Research01 Aug 1993
Nature Genetics

Volume: 4, P: 335-340
Selection of a human chromosome 21 enriched YAC sub–library using a chromosome–specific composite probe

Mark T. Ross
Dean Nižetić
Hans Lehrach
Research01 Jul 1992
Nature Genetics

Volume: 1, P: 284-290
Hypermutable myotonic dystrophy CTG repeats in transgenic mice

Darren G. Monckton
Mary I. Coolbaugh
C. Thomas Caskey
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 193-196
A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10

Robert A. Preston
J. Christopher Post
Garth D. Ehrlich
Research01 Jun 1994
Nature Genetics

Volume: 7, P: 149-153
Carbon and the formation of reduced chondrules

Harold C. Connolly Jr
Roger H. Hewins
Michèle Bourot-Denise
Research08 Sept 1994
Nature

Volume: 371, P: 136-139
The human met oncogene is related to the tyrosine kinase oncogenes

Michael Dean
Morag Park
George F. Vande Woude
Research28 Nov 1985
Nature

Volume: 318, P: 385-388
A subset of p53-deficient embryos exhibit exencephaly

Valerie P. Sah
Laura D. Attardi
Tyler Jacks
Research01 Jun 1995
Nature Genetics

Volume: 10, P: 175-180
Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Daniel L. Burgess
David C. Kohrman
Miriam H. Meisler
Research01 Aug 1995
Nature Genetics

Volume: 10, P: 461-465
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

S. Lyonnet
A. Bolino
G. Romeo
Research01 Aug 1993
Nature Genetics

Volume: 4, P: 346-350
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

D.W. Johnson
J.N. Berg
D.A. Marchuk
Research01 Jun 1996
Nature Genetics

Volume: 13, P: 189-195
Requirement for Xist in X chromosome inactivation

Graeme D. Penny
Graham F. Kay
Neil Brockdorff
Research11 Jan 1996
Nature

Volume: 379, P: 131-137
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36

Sally A. Lynch
Patricia M. Bond
Tom Strachan
Research01 Sept 1995
Nature Genetics

Volume: 11, P: 93-95
Holt–Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

Jonathan A. Terrett
Ruth Newbury-Ecob
J. David Brook
Research01 Apr 1994
Nature Genetics

Volume: 6, P: 401-404
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

S. Gispert
R. Twells
S. Chamberlain
Research01 Jul 1993
Nature Genetics

Volume: 4, P: 295-299
Structural Changes Occurring in 7s γ-Globulins

K. JAMES
C. S. HENNEY
D. R. STANWORTH
Research09 May 1964
Nature

Volume: 202, P: 563-566
Extracting Functional Modules from Biological Pathways

Sihai Zhao
Yong Li
ResearchOpen Access27 Dec 2007
Nature Precedings

P: 1
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

B. Weiffenbach
J. Dubois
R.C. Griggs
Research01 Jun 1993
Nature Genetics

Volume: 4, P: 165-169
Stereoscopic Vision in Macaque Monkey: Cells sensitive to Binocular Depth in Area 18 of the Macaque Monkey Cortex

D. H. HUBEL
T. N. WIESEL
Research03 Jan 1970
Nature

Volume: 225, P: 41-42
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

Michael D. Koob
Kellie A. Benzow
Laura P.W. Ranum
Research01 Jan 1998
Nature Genetics

Volume: 18, P: 72-75
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

L. Carrier
C. Hengstenberg
K. Schwartz
Research01 Jul 1993
Nature Genetics

Volume: 4, P: 311-313
Localization of cystic fibrosis locus to human chromosome 7cen–q22

Brandon J. Wainwright
Peter J. Scambler
Robert Williamson
Research28 Nov 1985
Nature

Volume: 318, P: 384-385
Close linkage of c-Harvey-ras-1 and the insulin gene to affective disorder is ruled out in three North American pedigrees

Sevilla D. Detera–Wadleigh
Wade H. Berrettini
Elliot S. Gershon
Research26 Feb 1987
Nature

Volume: 325, P: 806-808
Genetic Effects of Population Size Reduction

D. F. ROBERTS
Research14 Dec 1968
Nature

Volume: 220, P: 1084-1088
DNA-mediated genetic correction of thiamineless Arabidopsis thaliana

L. Ledoux
R. Huart
M. Jacobs
Research03 May 1974
Nature

Volume: 249, P: 17-21
Statistical Modeling of Epistasis and Linkage Decay using Logic Regression

Thomas Parker
Peter Szucs
John Henning
ResearchOpen Access20 Nov 2008
Nature Precedings

P: 1
Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome

Andrew Sharp
Gudrun Moore
Thomas Eggermann
Research07 Feb 2002
European Journal of Human Genetics

Volume: 9, P: 887-891
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR

Anneke M. Lucassen
Cecile Julier
John I. Bell
Research01 Jul 1993
Nature Genetics

Volume: 4, P: 305-310
SMN oligomerization defect correlates with spinal muscular atrophy severity

Christian L. Lorson
John Strasswimmer
Elliot J. Androphy
Research01 May 1998
Nature Genetics

Volume: 19, P: 63-66
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Francis L. Munier
Elena Korvatska
Daniel F. Schorderet
Research01 Mar 1997
Nature Genetics

Volume: 15, P: 247-251
Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemming

H-H. Ropers
U. Wiberg
Research22 Apr 1982
Nature

Volume: 296, P: 766-767
Linear increase of diploidy in human sperm with age: A four-colour FISH study

Mercè Bosch
Osvaldo Rajmil
Cristina Templado
Research18 Jul 2001
European Journal of Human Genetics

Volume: 9, P: 533-538
Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13

Todd D. Taylor
Michael Litt
Susan J. Hayflick
Research01 Dec 1996
Nature Genetics

Volume: 14, P: 479-481

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