Lista de obras - Claudia Santoro - Dominio Público Uruguay

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

artículo científico publicado en 2015

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations

artículo científico publicado en 2015

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

artículo científico publicado en 2020

Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type I: A Multicenter International Experience.

artículo científico

Epilepsy in NF1: a systematic review of the literature

artículo científico publicado en 2020

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

artículo científico publicado en 2016

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

artículo científico publicado en 2017

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

artículo científico publicado en 2022

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

artículo científico publicado en 2014

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

artículo científico publicado en 2018

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience

artículo científico publicado en 2017

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

artículo científico publicado en 2017

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

artículo científico publicado en 2022

Neuropeptides' Hypothalamic Regulation of Sleep Control in Children Affected by Functional Non-Retentive Fecal Incontinence

artículo científico publicado en 2020

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

artículo científico publicado en 2019

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

artículo científico publicado en 2018

Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.

artículo científico publicado en 2013

The endovanilloid/endocannabinoid system in human osteoclasts: possible involvement in bone formation and resorption.

artículo científico publicado en 2008

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

artículo científico publicado en 2017

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

artículo científico publicado en 2016

Lista de obras de Claudia Santoro

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type I: A Multicenter International Experience.

Epilepsy in NF1: a systematic review of the literature

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Neuropeptides' Hypothalamic Regulation of Sleep Control in Children Affected by Functional Non-Retentive Fecal Incontinence

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.

The endovanilloid/endocannabinoid system in human osteoclasts: possible involvement in bone formation and resorption.

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.