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Jacobsen syndrome

Orphanet journal of rare diseases, 2009-03, Vol.4 (1), p.9-9, Article 9

2009

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Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Frontiers in genetics, 2023-09, Vol.14

2023

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Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Frontiers in immunology, 2019-07, Vol.10, p.1685

2019

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190

2021

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Human mutation, 2019-02, Vol.40 (2), p.193-200

2019

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Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

Human molecular genetics, 2010-02, Vol.19 (4), p.648-656

2010

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Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association

BMC medical genomics, 2022-12, Vol.15 (1), p.266-266, Article 266

2022

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The 11q terminal deletion disorder: A prospective study of 110 cases

American journal of medical genetics. Part A, 2004-08, Vol.129A (1), p.51-61

2004

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A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Intractable & Rare Diseases Research, 2021/05/31, Vol.10(2), pp.95-101

2021

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A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study

Neural plasticity, 2020, Vol.2020 (2020), p.1-10

2020

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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e797-n/a

2019

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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Molecular genetics & genomic medicine, 2021-02, Vol.9 (2), p.e1576-n/a

2021

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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Clinical case reports, 2021-02, Vol.9 (2), p.922-926

2021

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Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017-10, Vol.6 (7), p.528-539

2017

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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

BMC genomics, 2010-07, Vol.3 (1), p.28-28, Article 28

2010

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Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes

Gene, 2004-05, Vol.333, p.111-119

2004

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Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1649-1655

2017

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Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

International journal of developmental neuroscience, 2020-06, Vol.80 (4), p.276-286

2020

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TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.828-833

2014

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Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.594-602

2019

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Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

European journal of medical genetics, 2023-07, Vol.66 (7), p.104754-104754, Article 104754

2023

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

American journal of human genetics, 2023-12, Vol.110 (12), p.2015-2028

2023

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.652-659

2016

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Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Human molecular genetics, 2019-07, Vol.28 (13), p.2133-2142

2019

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Jacobsen syndrome

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association

The 11q terminal deletion disorder: A prospective study of 110 cases

A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes

Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

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