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European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

Leukemia, 2019-08, Vol.33 (8), p.1851-1867

2019

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European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms: reponse to the comments from the Francophone Group of Hematological Cytogenetics (GFCH)

Leukemia, 2020-08, Vol.34 (8), p.2262-2264

2020

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Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

Journal of medical genetics, 2005-09, Vol.42 (9), p.699-705

2005

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

Journal of medical genetics, 2009-02, Vol.46 (2), p.123-131

2009

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The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

Leukemia, 2011-04, Vol.25 (4), p.622-628

2011

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Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

Cytogenetic and genome research, 2011-12, Vol.135 (3-4), p.222-227

2011

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Detailed molecular and clinical characterization of three patients with 21q deletions

Clinical genetics, 2010-02, Vol.77 (2), p.145-154

2010

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Results from First Pilot CEQAS for Myeloma Genetic Diagnosis

Clinical lymphoma, myeloma and leukemia, 2015-09, Vol.15, p.e110-e111

2015

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P624: CHROMOTHRIPSIS IN PATIENTS WITH CLL AND COMPLEX KARYOTYPE: PATTERNS OF ABERRATIONS AND PROGNOSTIC VALUE

HemaSphere, 2022-06, Vol.6, p.523-524

2022

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High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting

Clinical genetics, 2011-02, Vol.79 (2), p.147-157

2011

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Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

Leukemia, 2014-01, Vol.28 (1), p.196-198

2014

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CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

Clinical genetics, 2008-07, Vol.74 (1), p.31-38

2008

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Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH

Clinical genetics, 2010-06, Vol.77 (6), p.552-562

2010

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Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line

Leukemia, 2005-01, Vol.19 (1), p.159-161

2005

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Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage fusion breakage cycles?

Leukemia, 2007-06, Vol.21 (6), p.1327-1330

2007

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Human genetics, 2014-08, Vol.133 (8), p.997-1009

2014

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Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3217-3222

2008

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Concurrent microdeletion and duplication of 22q11.2

Clinical genetics, 2008-07, Vol.74 (1), p.61-67

2008

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Nature genetics, 2006-09, Vol.38 (9), p.999-1001

2006

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Thyrotoxic adenoma followed by atypical hyperthyroidism due to struma ovarii: clinical and genetic studies

European journal of endocrinology, 2004-04, Vol.150 (4), p.431

2004

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The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

Journal of medical genetics, 2004-03, Vol.41 (3), p.198-202

2004

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Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.3305-3313

2007

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A complex chromosome 21 rearrangement causes APP triplication and autosomal dominant early onset Alzheimer disease

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, Vol.31, p.469

2023

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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

Molecular syndromology, 2010-01, Vol.1 (5), p.246-254

2010

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European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms: reponse to the comments from the Francophone Group of Hematological Cytogenetics (GFCH)

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

Detailed molecular and clinical characterization of three patients with 21q deletions

Results from First Pilot CEQAS for Myeloma Genetic Diagnosis

P624: CHROMOTHRIPSIS IN PATIENTS WITH CLL AND COMPLEX KARYOTYPE: PATTERNS OF ABERRATIONS AND PROGNOSTIC VALUE

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH

Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line

Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage fusion breakage cycles?

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

Concurrent microdeletion and duplication of 22q11.2

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Thyrotoxic adenoma followed by atypical hyperthyroidism due to struma ovarii: clinical and genetic studies

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

A complex chromosome 21 rearrangement causes APP triplication and autosomal dominant early onset Alzheimer disease

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

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