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List of works by André Mégarbané

A Report on a Family with <i>TMTC3</i>-Related Syndrome and Review

scientific article published on 04 November 2020

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome ⬇️

scientific article published on June 15, 2011

Branchio-oculo-facial syndrome associated with a white forelock ⬇️

scientific article published on 01 July 1998

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

scientific article published on 13 April 2020

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family ⬇️

scientific article published on November 28, 1997

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene ⬇️

scientific article published on January 19, 2011

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

scientific article published on 07 October 2018

Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case ⬇️

scientific article published on May 1, 1998

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities ⬇️

scientific article published on August 1, 1997

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

scientific article published on 02 July 2020

Dravet Syndrome in Lebanon: First Report on Cases with Mutations

scientific article published on 21 January 2019

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations ⬇️

scientific article published on November 1, 2001

Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome ⬇️

scientific article published on September 1, 1998

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

scientific article published on 30 July 2019

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome ⬇️

scientific article published on April 29, 2011

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features

scientific article published on 05 February 2020

Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation

scientific article published on 09 May 2017

Homozygous mutation in ELMO2 may cause Ramon syndrome.

scientific article published on 2 November 2017

Interstitial duplication of the short arm of chromosome 2: report of a new case and review ⬇️

scientific article published on September 1, 1997

KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome ⬇️

scientific article published on February 19, 2013

Lack of anti-citrullinated fibrinogen and anti-CCP antibodies in adult patients with Down syndrome

scientific article published on 04 May 2012

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

scientific article published on 11 March 2014

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

scientific article (publication date: July 2011)

Mild Campomelic Dysplasia: Report on a Case and Review ⬇️

scientific article published on January 10, 2011

Prenatal Ultrasonography: Clinical and Radiological Findings in a Boy with Fibrochondrogenesis ⬇️

scientific article published on July 1, 1998

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon ⬇️

scientific article published on June 19, 2012

Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings ⬇️

scientific article published on 01 June 2003

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome ⬇️

scientific article published on July 1, 1997

Report of a Novel Mutation inCRB1in a Lebanese Family Presenting Retinal Dystrophy ⬇️

scientific article published on January 30, 2013

Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father ⬇️

scientific article published on January 15, 2013

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

scientific article published on 28 October 2020

The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

scientific article published on 16 April 2019

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

Turner syndrome in diverse populations

scientific article published on 19 December 2019

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