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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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Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia

Leukemia, 2011-06, Vol.25 (6), p.1042-1046

2011

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Nature genetics, 2000-01, Vol.24 (1), p.84-87

2000

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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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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Journal of medical genetics, 2000-06, Vol.37 (6), p.428-433

2000

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Monosomy 1p36

Journal of Medical Genetics, 1999-09, Vol.36 (9), p.657-663

1999

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Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

American journal of human genetics, 1997-09, Vol.61 (3), p.642-650

1997

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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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Medical applications of array CGH and the transformation of clinical cytogenetics

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.303-309

2006

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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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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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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

American journal of human genetics, 1996-04, Vol.58 (4), p.734-742

1996

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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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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

Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

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

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Monosomy 1p36

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

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

The Promise and Pitfalls of Telomere Region–Specific Probes

Medical applications of array CGH and the transformation of clinical cytogenetics

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

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

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

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

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