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Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)

Current issues in molecular biology, 2024-03, Vol.46 (3), p.2620-2643

2024

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Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

2nd ed. 2017, 2017

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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Journal of medical genetics, 2023-06, Vol.60 (6), p.547-556

2023

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Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

Journal of translational medicine, 2015-01, Vol.13 (1), p.16-16

2015

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Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.1086-1087

2016

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Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Journal of medical genetics, 2011-05, Vol.48 (5), p.299-307

2011

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Complex/variant translocations in chronic myelogenous leukemia (CML): genesis and prognosis with 4 new cases

Experimental and molecular pathology, 2014-08, Vol.97 (1), p.105-110

2014

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Complete monosomy 21 confirmed by FISH and array-CGH

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.935-937

2012

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Clinical-DNA Correlates of Anxiety in Patients with Ehlers-Danlos Syndrome

Open journal of psychiatry, 2024, Vol.14 (4), p.319-333

2024

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Demon Genes May Deform Common Syndromes: Collagen VI Gene Change in Down Syndrome Unifies the Medical and Molecular Approach to Hypermobility Disorders

Journal of biosciences and medicines, 2022, Vol.10 (3), p.1-7

2022

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Autism spectrum disorder with microdeletion 10q26 by subtelomere FISH

Pediatric health, medicine and therapeutics, 2011-05, Vol.2 (default), p.49-53

2011

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Mitochondrial Dysfunction Contributes to Ehlers-Danlos Syndrome - A Patient Presentation

Journal of biology and life science, 2020-09, Vol.11 (2), p.190

2020

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Fusion of HMGA2 to COG5 in uterine leiomyoma

Cancer genetics and cytogenetics, 2010-10, Vol.202 (1), p.11-16

2010

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Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis

Fetal diagnosis and therapy, 2006-02, Vol.21 (2), p.235-240

2006

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Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.136-140

2005

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Subtelomeric rearrangements in idiopathic mental retardation

Indian journal of pediatrics, 2005-08, Vol.72 (8), p.679-685

2005

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Complement Gene Mutation and Ehlers-Danlos Syndrome

Journal of biosciences and medicines, 2020, Vol.8 (6), p.28-36

2020

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Human Chromosome Variation

2, 2017

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Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)

American journal of medical genetics, 2004-01, Vol.124A (1), p.92-95

2004

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Familial interstitial deletion of chromosome 4 (p15.2p16.1)

Annales de génétique, 2003-10, Vol.46 (4), p.453-458

2003

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Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1

American journal of human genetics, 1998-12, Vol.63 (6), p.1757-1766

1998

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Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia : Copy-number variation

Journal of medical genetics, 2011, Vol.48 (5), p.299-307

2011

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Juvenile myelomonocytic leukemia in a child with Crohn disease

Cancer genetics and cytogenetics, 2006-05, Vol.167 (1), p.70-73

2006

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Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p)

Archives of ophthalmology (1960), 1999-12, Vol.117 (12), p.1648

1999

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Chronic Eosinophilic Leukemia and Hypereosinophilic Syndromes: Proposal for Classification, Literature Review, and Report of a Case with a Unique Chromosomal Abnormality

Cancer genetics and cytogenetics, 1998-12, Vol.107 (2), p.111-117

1998

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Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

Inaccuracy of non-invasive prenatal screening demands cautious counsel and follow-up

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Complex/variant translocations in chronic myelogenous leukemia (CML): genesis and prognosis with 4 new cases

Complete monosomy 21 confirmed by FISH and array-CGH

Clinical-DNA Correlates of Anxiety in Patients with Ehlers-Danlos Syndrome

Demon Genes May Deform Common Syndromes: Collagen VI Gene Change in Down Syndrome Unifies the Medical and Molecular Approach to Hypermobility Disorders

Autism spectrum disorder with microdeletion 10q26 by subtelomere FISH

Mitochondrial Dysfunction Contributes to Ehlers-Danlos Syndrome - A Patient Presentation

Fusion of HMGA2 to COG5 in uterine leiomyoma

Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

Subtelomeric rearrangements in idiopathic mental retardation

Complement Gene Mutation and Ehlers-Danlos Syndrome

Human Chromosome Variation

Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)

Familial interstitial deletion of chromosome 4 (p15.2p16.1)

Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia : Copy-number variation

Juvenile myelomonocytic leukemia in a child with Crohn disease

Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p)

Chronic Eosinophilic Leukemia and Hypereosinophilic Syndromes: Proposal for Classification, Literature Review, and Report of a Case with a Unique Chromosomal Abnormality

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