Lista de obras -

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

artículo científico publicado en 2017

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients ⬇️

artículo científico publicado el 1 de junio de 2003

Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndrome

scientific article published on 24 December 2020

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

artículo científico publicado en 2020

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome ⬇️

artículo científico publicado el 1 de julio de 2011

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

artículo científico publicado en 2020

Cytogenetic evidence for a less malignant leukemic cell population in the central nervous system in a critical case of acute myeloblastic leukemia ⬇️

artículo científico publicado el 1 de febrero de 1998

Further contribution to the description of phenotypes associated with partial 4q duplication ⬇️

artículo científico publicado el 22 de mayo de 1995

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

scientific article published on 09 July 2019

Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: Confirmation of a new entity ⬇️

artículo científico publicado el 23 de enero de 1998

Identification of the DNA methylation signature of Mowat-Wilson syndrome

artículo científico publicado en 2024

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

scientific article published on 25 November 2019

Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome

scientific article published on 18 September 2020

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

scientific article published on 22 October 2020

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

artículo científico publicado en 2015

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

scientific article published on 08 August 2018

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

artículo científico publicado en 2011

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 04 August 2007

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

artículo científico publicado en 2008

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