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Showing 1–50 of 80 results

Advanced filters: Author: Albert De La Chapelle Clear advanced filters

Chromosome Y-specific DNA in related human XX males

David C. Page
Albert de la Chapelle
Jean Weissenbach
Research01 May 1985
Nature

Volume: 315, P: 224-226
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability

Antonio Percesepe
Paula Kristo
Päivi Peltomäki
Research17 Jul 1998
Oncogene

Volume: 17, P: 157-163
Defective chemotaxis in monosomy-7

PETRI RUUTU
TAPANI RUUTU
ALBERT DE LA CHAPELLE
Research01 Jan 1977
Nature

Volume: 265, P: 146-147
Genetic evidence of X–Y interchange in a human XX male

Albert de la Chapelle
Patricia A. Tippett
David Page
Research12 Jan 1984
Nature

Volume: 307, P: 170-171
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
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

Esa Tahvanainen
Reijo Norio
Albert de la Chapelle
Research01 Jun 1994
Nature Genetics

Volume: 7, P: 201-204
Aberrant splicing of the CHM gene is a significant cause of choroideremia

Eeva-Marja Sankila
Ritva Tolvanen
Albert de la Chapelle
Research01 May 1992
Nature Genetics

Volume: 1, P: 109-113
Normal Mitotic Activity and Karyotype of Leucocytes from Pernicious Anæmia Patients cultured in Vitamin B₁₂-deficient Medium

ALBERT DE LA CHAPELLE
RALPH GRÄSBECK
Research09 Feb 1963
Nature

Volume: 197, P: 607-608
Founding mutations and Alu-mediated recombination in hereditary colon cancer

Minna Nyström-Lahti
Paula Kristo
Päivi Peltomäki
Research01 Nov 1995
Nature Medicine

Volume: 1, P: 1203-1206
Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males

David C. Page
Laura G. Brown
Albert de la Chapelle
Research30 Jul 1987
Nature

Volume: 328, P: 437-440
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

Laura Huopaniemi
Anne Rantala
Tiina Alitalo
Research05 May 1999
European Journal of Human Genetics

Volume: 7, P: 368-376
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

Tuija Sulisalo
Pertti Sistonen
Ilkka Kaitila
Research01 Apr 1993
Nature Genetics

Volume: 3, P: 338-341
Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

Pia Höglund
Siru Haila
Juha Kere
Research01 Nov 1996
Nature Genetics

Volume: 14, P: 316-319
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Johanna Hästbacka
Albert de la Chapelle
Eric Lander
Research01 Nov 1992
Nature Genetics

Volume: 2, P: 204-211
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

Akseli Hemminki
Päivi Peltomäki
Lauri A. Aaltonen
Research01 Dec 1994
Nature Genetics

Volume: 8, P: 405-410
Human genes: Mapping hereditary disorders

Albert de la Chapelle
News & Views01 Oct 1985
Nature

Volume: 317, P: 472-473
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)

Johanna Hästbacka
Anne Kerrebrock
Eric S Lander
Research01 Sept 1999
European Journal of Human Genetics

Volume: 7, P: 664-670
Unravelling aetiology in male SLE—the X chromosome dose effect

New evidence suggesting an X chromosome effect underlies the development and progression of male systemic lupus erythematosus comes from a study of sex chromosome aneuploidy in men with this disease. The description of a number of immunoregulatory mechanisms encoded on the X chromosome support this hypothesis; however, further studies are warranted.

Gisele Zandman-Goddard
Elena Peeva
News & Views17 Apr 2012
Nature Reviews Rheumatology

Volume: 8, P: 310-312
Gender verification of female athletes

Louis J Elsas
Arne Ljungqvist
Anke A Ehrhardt
Reviews01 Jul 2000
Genetics in Medicine

Volume: 2, P: 249-254
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes

Marie-Christine Simmler
François Rouyer
Jean Weissenbach
Research24 Oct 1985
Nature

Volume: 317, P: 692-697
Testing tumors for microsatellite instability

Albert de la Chapelle
Reviews21 May 1999
European Journal of Human Genetics

Volume: 7, P: 407-408
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Kimmo Virtaneva
Elena D'Amato
Anna-Elina Lehesjoki
Research01 Apr 1997
Nature Genetics

Volume: 15, P: 393-396
X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere
Anand K. Srivastava
David Schlessinger
Research01 Aug 1996
Nature Genetics

Volume: 13, P: 409-416
Olympic row over sex testing

M. A. FERGUSON-SMITH
ALISON CARLSON
JOE LEIGH SIMPSON
Correspondence02 Jan 1992
Nature

Volume: 355, P: 10
The intrinsic factor–vitamin B₁₂ receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein

Renata Kozyraki
John Fyfe
Søren K. Moestrup
Research01 Jun 1999
Nature Medicine

Volume: 5, P: 656-661
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer

Nicholas C. Nicolaides
Nickolas Papadopoulos
Kenneth W. Kinzler
Research01 Sept 1994
Nature

Volume: 371, P: 75-80
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

Akseli Hemminki
Ian Tomlinson
Lauri A. Aaltonen
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 87-90
Polymerase δ variants in RER colorectal tumours

Luis T. da Costa
Bo Liu
Antero G. So
Correspondence01 Jan 1995
Nature Genetics

Volume: 9, P: 10-11
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene

Renee Reijo
Tien-Yi Lee
David C. Page
Research01 Aug 1995
Nature Genetics

Volume: 10, P: 383-393
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

Bo Liu
Nicholas C. Nicolaides
Bert Vogelstein
Research01 Jan 1995
Nature Genetics

Volume: 9, P: 48-55
A European Research Conference on the Inherited Disorders and Their Genes in Different European Populations

Albert de la Chapelle
Peter Harper
Reijo Norio
News & Views01 Jul 1994
European Journal of Human Genetics

Volume: 2, P: 191-192
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. Here, the authors conduct a GWAS and suggest protective effect of higher TSH on risk of thyroid cancer and goitre.

Wei Zhou
Ben Brumpton
Bjørn Olav Åsvold
ResearchOpen Access07 Aug 2020
Nature Communications

Volume: 11, P: 1-13
Mutations in KERA, encoding keratocan, cause cornea plana

Natalia S. Pellegata
Jose L. Dieguez-Lucena
Albert de la Chapelle
Research01 May 2000
Nature Genetics

Volume: 25, P: 91-95
Conversion of diploidy to haploidy

Individuals susceptible to multigene disorders may now be spotted more easily.

Hai Yan
Nickolas Papadopoulos
Bert Vogelstein
Research17 Feb 2000
Nature

Volume: 403, P: 723-724
The Fluorescence of Quinacrine Mustard with Nucleic Acids

RITRA-KAJSA SELANDER
ALBERT DE LA CHAPELLE
Correspondence24 Oct 1973
Nature New Biology

Volume: 245, P: 240-244
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

Julius Gudmundsson and colleagues report the association of two SNPs on chromosomes 9 and 14 with thyroid cancer in European populations. The variants are near FOXE1 and NKX2-1, both good biological candidates, and individuals who are homozygous for both risk variants have a 5.7-fold greater risk of thyroid cancer.

Julius Gudmundsson
Patrick Sulem
Kari Stefansson
Research06 Feb 2009
Nature Genetics

Volume: 41, P: 460-464
Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer

Wei Zhou
Ben Brumpton
Bjørn Olav Åsvold
Amendments and CorrectionsOpen Access16 Dec 2021
Nature Communications

Volume: 12, P: 1-2
Discovery of common and rare genetic risk variants for colorectal cancer

Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.

Jeroen R. Huyghe
Stephanie A. Bien
Ulrike Peters
Research03 Dec 2018
Nature Genetics

Volume: 51, P: 76-87
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

A genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.

Erik L. Bao
Satish K. Nandakumar
Vijay G. Sankaran
Research14 Oct 2020
Nature

Volume: 586, P: 769-775
Gene expression profiling reveals fundamental biological differences in AML with trisomy 8 and normal cytogenetics

Kimmo I. Virtaneva
Fred A. Wright
Ralf Krahe
Research Highlights01 Apr 2001
Nature Genetics

Volume: 27, P: 65
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Susanna Ranta
Yonghui Zhang
Anna-Elina Lehesjoki
Research01 Oct 1999
Nature Genetics

Volume: 23, P: 233-236
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Akseli Hemminki
David Markie
Lauri A. Aaltonen
Research08 Jan 1998
Nature

Volume: 391, P: 184-187
Mutations in CUBN, encoding the intrinsic factor-vitamin B₁₂ receptor, cubilin, cause hereditary megaloblastic anaemia 1

Maria Aminoff
Jo Ellen Carter
Ralf Krahe
Research01 Mar 1999
Nature Genetics

Volume: 21, P: 309-313
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Kristiina Avela
Marita Lipsanen-Nyman
Anna-Elina Lehesjoki
Research01 Jul 2000
Nature Genetics

Volume: 25, P: 298-301
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

Stephan M. Tanner
Maria Aminoff
Albert de la Chapelle
Research18 Feb 2003
Nature Genetics

Volume: 33, P: 426-429
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of Lynch syndrome in the Icelandic population.

Sigurdis Haraldsdottir
Thorunn Rafnar
Kari Stefansson
ResearchOpen Access03 May 2017
Nature Communications

Volume: 8, P: 1-11
A genome-wide association study yields five novel thyroid cancer risk loci

Non-medullary thyroid cancers include papillary and follicular subtypes, and are the most common type of thyroid cancer. Here, the authors extend previous work by performing a large genome-wide association study and find five novel loci associated with this disease.

Julius Gudmundsson
Gudmar Thorleifsson
Kari Stefansson
ResearchOpen Access14 Feb 2017
Nature Communications

Volume: 8, P: 1-8
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

Krisztina Wutz
Christian Sauer
Carsten M Pusch
Research16 Jul 2002
European Journal of Human Genetics

Volume: 10, P: 449-456
Differential expression of DOC-1 in microsatellite-unstable human colorectal cancer

Ziqiang Yuan
Tara Sotsky Kent
Thomas K Weber
Research18 Sept 2003
Oncogene

Volume: 22, P: 6304-6310
Evidence against a major role of PEG1/MEST in Silver–Russell syndrome

Anne M Riesewijk
Nadya Blagitko
Vera M Kalscheuer
Research21 Apr 1998
European Journal of Human Genetics

Volume: 6, P: 114-120

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