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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13439

2021

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Genetics in medicine, 2019-04, Vol.21 (4), p.816-825

2019

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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2380-2387

2020

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MET is a new confirmed gene responsible for familial distal arthrogryposis

EMBO molecular medicine, 2024-04, Vol.16 (4), p.720-722

2024

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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.195-201

2015

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SELP Asp603Asn and severe thrombosis in COVID-19 males

Journal of hematology and oncology, 2021-08, Vol.14 (1), p.123-123, Article 123

2021

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Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males

Journal of hematology and oncology, 2023-02, Vol.16 (1), p.11-11, Article 11

2023

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Effect of the COVID‐19 vaccine on facial aesthetic injectables and suspension threads among patients treated by the Philippine Dermatological Society (PDS) dermatologists

Journal of cosmetic dermatology, 2022-12, Vol.21 (12), p.6562-6563

2022

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Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

Human mutation, 2018-02, Vol.39 (2), p.302-314

2018

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Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

Revista brasileira de psiquiatria, 2023-01, Vol.45 (1), p.11-19

2023

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

PloS one, 2013-02, Vol.8 (2), p.e56599-e56599

2013

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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

Brain sciences, 2021-07, Vol.11 (7), p.936

2021

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Journal of human genetics, 2016-02, Vol.61 (2), p.95-101

2016

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Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification

Science (American Association for the Advancement of Science), 2003-01, Vol.299 (5604), p.259-262

2003

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IL TONDO RICCARDI DEL VERNACCIA: UN'OPERA RISCOPERTA DI MARIOTTO ALBERTINELLI E IL SUO RAPPORTO CON RAFFAELLO

Mitteilungen des Kunsthistorischen Institutes in Florenz, 2023-01, Vol.65 (1), p.102-123

Mari, Francesca

2023

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Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

International journal of molecular sciences, 2016-02, Vol.17 (3), p.306-306

2016

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An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model

Cells (Basel, Switzerland), 2023-03, Vol.12 (7), p.977

2023

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Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

Oxidative medicine and cellular longevity, 2014-01, Vol.2014 (2014), p.1-10

2014

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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.590-596

2016

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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Brain & development (Tokyo. 1979), 2015-05, Vol.37 (5), p.527-536

2015

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Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Kidney international, 2004-05, Vol.65 (5), p.1598-1603

2004

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Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

Nephrology, dialysis, transplantation, 2009-05, Vol.24 (5), p.1464-1471

2009

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Investigation of modifier genes within copy number variations in Rett syndrome

Journal of human genetics, 2011-07, Vol.56 (7), p.508-515

2011

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Human mutation, 2004-08, Vol.24 (2), p.172-177

2004

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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

MET is a new confirmed gene responsible for familial distal arthrogryposis

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

SELP Asp603Asn and severe thrombosis in COVID-19 males

Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males

Effect of the COVID‐19 vaccine on facial aesthetic injectables and suspension threads among patients treated by the Philippine Dermatological Society (PDS) dermatologists

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification

IL TONDO RICCARDI DEL VERNACCIA: UN'OPERA RISCOPERTA DI MARIOTTO ALBERTINELLI E IL SUO RAPPORTO CON RAFFAELLO

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

Investigation of modifier genes within copy number variations in Rett syndrome

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

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