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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

American journal of human genetics, 2010-08, Vol.87 (2), p.250-257

2010

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A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene ( HTT )

International journal of molecular sciences, 2021-02, Vol.22 (4), p.1689

2021

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Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Stem cell research, 2019-10, Vol.40, p.101551-101551, Article 101551

2019

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Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

European journal of medical genetics, 2013-02, Vol.56 (2), p.80-87

2013

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Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage

Stem cell research, 2018-04, Vol.28, p.145-148

2018

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Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Stem cell research, 2018-03, Vol.27, p.86-89

2018

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Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier

Tremor and other hyperkinetic movements (New York, N.Y.), 2018-12, Vol.8, p.616-616

2018

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Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

Stem cell research, 2018-05, Vol.29, p.174-178

2018

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A novel ANO3 variant in two siblings with different phenotypes

Parkinsonism & related disorders, 2023-06, Vol.111, p.105413-105413, Article 105413

2023

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Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

Lancet neurology, 2018-11, Vol.17 (11), p.986-993

2018

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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

American journal of human genetics, 2021-11, Vol.108 (11), p.2112-2129

2021

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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1068-1071

2015

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I10 Cross-sectional and longitudinal analysis in juvenile huntington disease in italy

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A62-A62

2016

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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.479-484

2023

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I3 High prevalence of huntington’s disease in San Marino Republic: an epidemiological survey

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A60-A60

2016

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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Human mutation, 2018-10, Vol.39 (10), p.1428-1441

2018

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Familial transposition of the great arteries caused by multiple mutations in laterality genes

Heart (British Cardiac Society), 2010-05, Vol.96 (9), p.673-677

2010

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Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Human mutation, 2015-08, Vol.36 (8), p.787-796

2015

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Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees

Movement disorders, 2013-06, Vol.28 (6), p.813-817

2013

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Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients

Archives of oral biology, 2017-08, Vol.80, p.160-163

2017

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Cover Image, Volume 39, Issue 10

Human mutation, 2018-10, Vol.39 (10), p.i-i

2018

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Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier

Tremor and other hyperkinetic movements (New York, N.Y.), 2018, Vol.8, p.616

2018

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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene ( HTT )

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease

A novel ANO3 variant in two siblings with different phenotypes

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

I10 Cross-sectional and longitudinal analysis in juvenile huntington disease in italy

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

I3 High prevalence of huntington’s disease in San Marino Republic: an epidemiological survey

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients

Cover Image, Volume 39, Issue 10

Cover Image, Volume 38, Issue 4

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome: HUMAN MUTATION

Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier

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