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Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

著者

Jonathan Flint

この作品が含まれる作品: Journal of Medical Genetics

出版日: 2000-06-01

言語: 英語

Cites articles 51

Date

タイトル

著者

2000-01-01

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

Michael R. Speicher, Thomas Meitinger
1999-11-13

Subtle chromosomal rearrangements in children with unexplained mental retardation

Jonathan Flint
1999-09-01

Characterization of physical gap sizes at human telomeres
1999-09-01

Monosomy 1p36
1999-01-01

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.
1999-02-01

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

ジョン・マクファーソン
1999-08-01

Delineation of multiple deleted regions in 7q in myeloid disorders

Sabrina Tosi, Stephen W. Scherer
1998-11-01

Two 22q telomere deletions serendipitously detected by FISH
1998-09-01

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements

Jonathan Flint
1998-06-01

Identification of cryptic rearrangements in patients with 18q- deletion syndrome
1997-09-01

Characterization of short tandem repeats from thirty-one human telomeres

Jonathan Flint
1997-08-01

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients
1997-01-01

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

Jonathan Flint
1997-04-01

Molecular-cytogenetic detection of a deletion of 1p36.3.

Gilles Vergnaud, Jonathan Flint
1997-03-01

Automated selection of short tandem repeat polymorphism markers for whole genome screening for segmental aneusomy
1997-03

The relationship between chromosome structure and function at a human telomeric region

Gos Micklem, Jonathan Flint
1997-01-01

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation

Jan Dumański
1997-08-01

Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains.

Jonathan Flint, Gillian Bates, Gos Micklem, Edward J. Louis
1996-06-01

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities
1996-08-01

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.

Jonathan Flint, Charles Craddock
1995-09-20

The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter

Jonathan Flint, Joris R Vermeesch
1995-02-01

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

Jonathan Flint, Andrew Oliver Mungo Wilkie
1995-07-01

Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature
1994-03-01

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Jan Dumański
1994-09-01

Healing of broken human chromosomes by the addition of telomeric repeats

Jonathan Flint
1994-01-01

A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genome.
1993-04-01

De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16)

Andrew Oliver Mungo Wilkie
1993-09-01

Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms

Andrew Oliver Mungo Wilkie
1992-06-01

The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes

Salvatore Saccone, Albertina De Sario
1992-10-01

The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

Gillian Bates, James F. Gusella
1992-07-01

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
1992-06

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A

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