List of works - 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

article

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

scientific article

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

scientific article published on 11 April 2018

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

scientific article published on January 2012

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

scientific article published in 2022

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

scientific article published in April 2009

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

scientific article

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

scientific article published on 01 June 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

scientific article

Clinical and mutational spectrum of Mowat-Wilson syndrome

scientific article published on 25 February 2005

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

scientific article published on 28 February 2018

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

scientific article published on 14 October 2016

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

scientific article

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

scientific article published on 11 October 2020

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

scholarly article published on 19 January 2024

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Identification of the DNA methylation signature of Mowat-Wilson syndrome

scientific article published in 2024

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

scientific article published on 20 August 2020

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

scientific article

Liver abnormalities and portal hypertension in Ullrich-Turner syndrome ⬇️

scientific article published on 01 November 1998

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

scientific article (publication date: July 2011)

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

scientific article

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

scientific article published in August 2007

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

scientific article published on 30 June 2015

Mowat-Wilson syndrome: growth charts

scientific article published on 15 June 2020

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

scientific article published on 9 June 2011

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

scientific article published on 23 May 2016

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

scientific article published on 5 April 2015

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

scientific article

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

scientific article published on 01 June 2020

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

scientific article published on 29 September 2017

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

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

scientific article published on January 1, 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

scientific article published on 23 December 2014

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

scientific article published on 12 October 2019

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

scientific article published on 01 September 2020

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

scientific article published on 26 April 2019

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.

scientific article published in June 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

scientific article published on 15 February 2008

List of works by 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

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

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

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Identification of the DNA methylation signature of Mowat-Wilson syndrome

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

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

Liver abnormalities and portal hypertension in Ullrich-Turner syndrome ⬇️

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.

Mowat-Wilson syndrome: growth charts

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

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

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

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

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 Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

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

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

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