Lista de obras - Livia Garavelli - Dominio Público Uruguay

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

article

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review

artículo científico publicado en 2011

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

artículo científico publicado en 2009

Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.

artículo científico publicado en 2018

Biliary obstruction caused by portal cavernoma in a patient with laterality sequence ⬇️

artículo científico publicado el 1 de junio de 1997

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

artículo científico publicado en 2013

Clinical and mutational spectrum of Mowat-Wilson syndrome.

artículo científico publicado en 2005

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

artículo científico publicado en 2018

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

artículo científico publicado en 2016

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

artículo científico publicado en 2013

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

artículo científico publicado en 2020

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

Identification of the DNA methylation signature of Mowat-Wilson syndrome

artículo científico publicado en 2024

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease

artículo científico publicado en 2014

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

artículo científico publicado en 2011

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

artículo científico publicado en 2011

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

artículo científico publicado en 2007

Mitotic crossover promotes leukemogenesis in children born with TEL-AML1 via the generation of loss of heterozygosity at 12p.

artículo científico publicado en 2015

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

artículo científico publicado en 2011

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2016

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma

artículo científico publicado en 2015

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

artículo científico publicado en 2015

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

artículo científico publicado en 2017

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients ⬇️

artículo científico publicado el 1 de enero de 2004

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

scientific article published on 08 August 2018

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

artículo científico publicado en 2014

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review

artículo científico publicado en 2020

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

article published in 2013

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

artículo científico publicado en 2010

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes

scientific article published on 01 May 2018

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

Lista de obras de Livia Garavelli

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

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

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.

Biliary obstruction caused by portal cavernoma in a patient with laterality sequence ⬇️

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Identification of the DNA methylation signature of Mowat-Wilson syndrome

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

Mitotic crossover promotes leukemogenesis in children born with TEL-AML1 via the generation of loss of heterozygosity at 12p.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients ⬇️

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

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes

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

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