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The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Orphanet journal of rare diseases, 2008-11, Vol.3 (1), p.30-30, Article 30

Battaglia, Agatino

2008

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An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

Scientific reports, 2020-02, Vol.10 (1), p.3198, Article 3198

2020

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Wolf-Hirschhorn syndrome: A review and update

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-09, Vol.169C (3), p.216-223

2015

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Cassidy and Allanson's Management of Genetic Syndromes

Fourth edition, 2020

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The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder

Brain & development (Tokyo. 1979), 2005-08, Vol.27 (5), p.365-369

Battaglia, Agatino

2005

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Pediatrics (Evanston), 2008-02, Vol.121 (2), p.404

2008

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P139: Seizures in trisomy 18: Prevalence, description, and treatment

Genetics in Medicine Open, 2023, Vol.1 (1), p.100168, Article 100168

2023

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The behavioral phenotype of the idic(15) syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-11, Vol.154C (4), p.448-455

2010

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Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

Frontiers in genetics, 2022-11, Vol.13, p.953762-953762

2022

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Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1694-1701

2015

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

EMBO molecular medicine, 2014-06, Vol.6 (6), p.795-809

2014

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Common and rare variants of microRNA genes in autism spectrum disorders

The world journal of biological psychiatry, 2015-08, Vol.16 (6), p.376-386

2015

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Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.45-52

2008

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MET and autism susceptibility : family and case-control studies

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.749-758

2009

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Further characterization of the new microdeletion syndrome of 16p11.2-p12.2

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1200-1204

2009

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Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2)

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-05, Vol.135B (1), p.42-46

2005

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Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome

Brain & development (Tokyo. 1979), 2005-08, Vol.27 (5), p.362-364

2005

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Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1794-1802

2021

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Analysis of X chromosome inactivation in autism spectrum disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-09, Vol.147B (6), p.830-835

2008

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Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

Molecular autism, 2010-03, Vol.1 (1), p.7-7, Article 7

2010

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The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2748-2755

2021

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Reflections on observing faces in art

American journal of medical genetics. Part C, Seminars in medical genetics, 2021-06, Vol.187 (2), p.144-147

2021

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

EMBO molecular medicine, 2014-12, Vol.6 (12), p.1639-1639

2014

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Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.986-987

Battaglia, Agatino

2011

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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

European journal of paediatric neurology, 2013-11, Vol.17 (6), p.589-599

2013

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The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

Wolf-Hirschhorn syndrome: A review and update

Cassidy and Allanson's Management of Genetic Syndromes

The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

P139: Seizures in trisomy 18: Prevalence, description, and treatment

The behavioral phenotype of the idic(15) syndrome

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Common and rare variants of microRNA genes in autism spectrum disorders

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

MET and autism susceptibility : family and case-control studies

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2

Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2)

Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome

Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Analysis of X chromosome inactivation in autism spectrum disorders

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology

Reflections on observing faces in art

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

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