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Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1

Genome research, 2008-11, Vol.18 (11), p.1686

2008

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Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.793-797

2009

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Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2034-2036

Barber, John C.K.

2018

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

The New England journal of medicine, 2008-10, Vol.359 (16), p.1685-1699

2008

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McKinlay Gardner RJ, Sutherland GR, Shaffer LG: Chromosome abnormalities and genetic counselling

Human genetics, 2012-08, Vol.131 (8), p.1393

Barber, John C.K

2012

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Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

Cytogenetic and genome research, 2020-07, Vol.160 (4), p.185-192

2020

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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.319-329

2018

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Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

European journal of human genetics : EJHG, 2016-01, Vol.25 (1), p.8-9

2016

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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.182-189

2013

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Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.37-43

2009

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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2052-2064

2015

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500

2013

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Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.458-463

2014

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8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.18-27

2008

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Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification?

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1899-1901

Barber, John C.K.

2008

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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.147-154

2009

Volltextzugriff (PDF)

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2807-2815

2011

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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1131-1136

2005

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The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity

American journal of human genetics, 2007-10, Vol.81 (4), p.847-856

2007

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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1764-1769

2010

Volltextzugriff (PDF)

Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12 qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

European journal of human genetics : EJHG, 2007-01, Vol.15 (1), p.45-52

2007

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Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

European journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.739-743

2006

Volltextzugriff (PDF)

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.106-112

2011

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Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy

Prenatal diagnosis, 2007-09, Vol.27 (9), p.858-860

2007

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The Borgaonkar variations

Trends in genetics, 1998-09, Vol.14 (9), p.378-378

Barber, John C.K

1998

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Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

McKinlay Gardner RJ, Sutherland GR, Shaffer LG: Chromosome abnormalities and genetic counselling

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

Terminal 3p deletions: Phenotypic variability, chromosomal non-penetrance, or gene modification?

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12 qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy

The Borgaonkar variations

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