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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Clinical genetics, 2008-11, Vol.74 (5), p.469-475

2008

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Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

Cytogenetic and genome research, 2013-01, Vol.141 (1), p.1-6

2013

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Array comparative genomic hybridization in global developmental delay

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-10, Vol.147B (7), p.1101-1108

2008

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Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

Clinical genetics, 2003-10, Vol.64 (4), p.310-316

2003

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Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition

Cytogenetic and genome research, 2009-01, Vol.127 (1), p.1-4

2009

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The Promise and Pitfalls of Telomere Region–Specific Probes

American journal of human genetics, 2000-11, Vol.67 (5), p.1356-1358

2000

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Successful treatment of acquired hemophilia with oral immunosuppressive therapy

Annals of internal medicine, 1997-08, Vol.127 (3), p.206

1997

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Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

Human molecular genetics, 2003-08, Vol.12 (15), p.1823-1837

2003

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A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation

American journal of human genetics, 1999-12, Vol.65 (6), p.1608-1616

1999

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Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells

Clinical immunology (Orlando, Fla.), 2008-08, Vol.128 (2), p.181-189

2008

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Medical applications of array CGH and the transformation of clinical cytogenetics

Cytogenetic and genome research, 2006-01, Vol.115 (3-4), p.303-309

2006

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MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS

Annual review of genetics, 2000-01, Vol.34 (1), p.297-329

2000

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Terminal deletion of 1p36

The Lancet (British edition), 2001-12, Vol.358 (DEC), p.S9-S9

2001

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Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10)

American journal of medical genetics, 2004-12, Vol.131A (2), p.190-193

2004

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Molecular Refinement of the 1p36 Deletion Syndrome Reveals Size Diversity and a Preponderance of Maternally Derived Deletions

Human molecular genetics, 1999-02, Vol.8 (2), p.313-321

1999

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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

Nature genetics, 1994-11, Vol.8 (3), p.229-235

1994

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A cytogeneticist’s perspective on genomic microarrays

Human reproduction update, 2004-05, Vol.10 (3), p.221-226

2004

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Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

American journal of human genetics, 2003-05, Vol.72 (5), p.1101-1116

2003

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Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase

Human molecular genetics, 2000-01, Vol.9 (2), p.187-194

2000

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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Molecular syndromology, 2013-01, Vol.3 (6), p.247-254

2013

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Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia

American journal of human genetics, 1998-06, Vol.62 (6), p.1551-1555

1998

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Breakpoint Diversity Illustrates Distinct Mechanisms for Robertsonian Translocation Formation

Human molecular genetics, 1996-09, Vol.5 (9), p.1279-1288

1996

Volltextzugriff (PDF)

Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

American journal of medical genetics, 2000-08, Vol.93 (5), p.381-387

2000

Volltextzugriff (PDF)

Characterization of Human Retinal Fascin Gene (FSCN2) at 17q25: Close Physical Linkage of Fascin and Cytoplasmic Actin Genes

Genomics (San Diego, Calif.), 2000-04, Vol.65 (2), p.146-156

2000

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A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus

American journal of human genetics, 1997-08, Vol.61 (2), p.395-401

1997

Volltextzugriff (PDF)

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

Array comparative genomic hybridization in global developmental delay

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition

The Promise and Pitfalls of Telomere Region–Specific Probes

Successful treatment of acquired hemophilia with oral immunosuppressive therapy

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation

Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells

Medical applications of array CGH and the transformation of clinical cytogenetics

MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS

Terminal deletion of 1p36

Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10)

Molecular Refinement of the 1p36 Deletion Syndrome Reveals Size Diversity and a Preponderance of Maternally Derived Deletions

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

A cytogeneticist’s perspective on genomic microarrays

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia

Breakpoint Diversity Illustrates Distinct Mechanisms for Robertsonian Translocation Formation

Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

Characterization of Human Retinal Fascin Gene (FSCN2) at 17q25: Close Physical Linkage of Fascin and Cytoplasmic Actin Genes

A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus

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