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Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

Cytogenetic and genome research, 2013-01, Vol.139 (3), p.158-163

2013

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Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.23-34

2006

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Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases

Human reproduction (Oxford), 2009-08, Vol.24 (8), p.2029-2033

2009

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Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis

Cytogenetic and genome research, 2014-01, Vol.142 (2), p.145-149

2014

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An HDAC1-binding domain within FATS bridges p21 turnover to radiation-induced tumorigenesis

Oncogene, 2010-05, Vol.29 (18), p.2659-2671

2010

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Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

Molecular syndromology, 2012-09, Vol.3 (3), p.120-130

2012

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A report of pure 7p duplication syndrome and review of the literature

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2802-2806

2006

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Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level

International journal of molecular medicine, 2008-02, Vol.21 (2), p.189-200

2008

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Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding

Cytogenetic and genome research, 2006-08, Vol.114 (3-4), p.240-244

2006

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Evidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements

Balkan journal of medical genetics, 2011-01, Vol.14 (2), p.13-16

2011

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Distal partial trisomy 1q: report of two cases and a review of the literature

Prenatal diagnosis, 2007-09, Vol.27 (9), p.865-871

2007

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Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?

Cytogenetic and genome research, 2011-01, Vol.132 (1-2), p.121-123

2011

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Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

Cytogenetic and genome research, 2007-01, Vol.118 (1), p.31-37

2007

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Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

American journal of medical genetics. Part A, 2007-11, Vol.143A (22), p.2727-2732

2007

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Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm

Molecular human reproduction, 2007-10, Vol.13 (10), p.751-756

2007

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10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Cytogenetic and genome research, 2009-01, Vol.124 (1), p.102-105

2009

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New insights into the evolution of chromosome 1

Cytogenetic and genome research, 2005-01, Vol.108 (1-3), p.217-222

2005

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Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

International journal of molecular medicine, 2007-06, Vol.19 (6), p.855-864

2007

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Reconstruction of the female Gorilla gorilla karyotype using 25-color FISH and multicolor banding (MCB)

Cytogenetic and genome research, 2001-01, Vol.93 (3-4), p.242-248

2001

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Common fragile sites: genomic hotspots of DNA damage and carcinogenesis

International Journal of Molecular Sciences, 2012-09, Vol.13 (9), p.11974-11999

2012

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Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype – 17 New Cases and a Review of the Literature

Sexual development, 2007-01, Vol.1 (6), p.353-362

2007

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Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines

Cytogenetic and genome research, 2006-08, Vol.114 (3-4), p.319-324

2006

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A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences

Cytogenetic and genome research, 2008-08, Vol.121 (3-4), p.286-287

2008

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Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2661-2663

2010

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Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face

Cytogenetic and genome research, 2006-08, Vol.114 (3-4), p.330-337

2006

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In Situ Hybridization, Fluorescence
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Chromosome Banding
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Genetic Markers
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In Situ Hybridization, Fluorescence - Methods
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Small Supernumerary Marker Chromosome
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Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases

Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis

An HDAC1-binding domain within FATS bridges p21 turnover to radiation-induced tumorigenesis

Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

A report of pure 7p duplication syndrome and review of the literature

Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level

Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding

Evidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements

Distal partial trisomy 1q: report of two cases and a review of the literature

Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?

Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

New insights into the evolution of chromosome 1

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

Reconstruction of the female Gorilla gorilla karyotype using 25-color FISH and multicolor banding (MCB)

Common fragile sites: genomic hotspots of DNA damage and carcinogenesis

Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype – 17 New Cases and a Review of the Literature

Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines

A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face

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