Lista de obras -

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

artículo científico publicado en 2020

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

artículo científico publicado en 2018

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

artículo científico publicado en 2020

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

artículo científico publicado en 2017

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

scientific article published on 04 January 2021

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

artículo científico publicado en 2017

Expanding the clinical spectrum associated with PACS2 mutations

artículo científico publicado en 2019

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

scientific article published on 20 May 2019

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

artículo científico publicado en 2017

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.

artículo científico publicado en 2018

KBG syndrome: Common and uncommon clinical features based on 31 new patients

artículo científico publicado en 2020

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

artículo científico publicado en 2020

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

POGZ-related epilepsy: Case report and review of the literature

artículo científico publicado en 2019

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review

artículo científico publicado en 2020

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

artículo científico publicado en 2020

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

artículo científico publicado en 2020

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

artículo científico publicado en 2017

Lista de obras de

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

Expanding the clinical spectrum associated with PACS2 mutations

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

POGZ-related epilepsy: Case report and review of the literature

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.