| Travaux et publications des enseignants |
Génétique
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Marianne Sakr ABI FADEL, 01/11/2010
6 pages
A PCSK9 variant and familial combined hyperlipidaemia.
Marianne Sakr ABI FADEL, 01/12/2008
6 pages
Après le récepteur des LDL et l'apolipoprotéine B, l'hypercholestérolémie autosomique dominante révèle son 3ème protagoniste : PCSK9
Marianne Sakr ABI FADEL, 01/01/2007
6 pages
Complexe mendélien de la ligne médiane
Communication interauriculaire de type ostium secundum associée à des malformations cardiaques et facio-thoraciques
André Edmond MEGARBANE, 01/01/2000
8 pages
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Marianne Sakr ABI FADEL, 01/01/2013
4 pages
Du clonage à la déshumanisation
André Edmond MEGARBANE, 01/01/1997
3 pages
Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
Marianne Sakr ABI FADEL, 01/05/2012
7 pages
Effet des variations de PCSK9 sur les taux de cholestérol plasmatique
Marianne Sakr ABI FADEL, 01/01/2008
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
Marianne Sakr ABI FADEL, 01/01/2008
13 pages
Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
Marianne Sakr ABI FADEL, 01/12/2012
5 pages
Hypercholestérolémie familiale
Marianne Sakr ABI FADEL,
Identification d’un cinquième gène l’hypercholestérolémie familiale
Marianne Sakr ABI FADEL, 01/01/2008
Inné ou acquis. Où se situe la limite?
André Edmond MEGARBANE, 12/01/2003
In vivo evidence that furin from hepatocytes inactivates PCSK9.
Marianne Sakr ABI FADEL, 01/02/2011
6 pages
La génétique à la rescousse de l'épidémie de l'obésité
André Edmond MEGARBANE, 05/01/2004
La leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux
étude d'une famille libanaise et revue de la littérature
André Edmond MEGARBANE, 01/01/2005
9 pages
La maladie de von hippel-lindau
Etude moléculaire de deux familles libanaises et analyse de la corrélation génotype-phénotype
André Edmond MEGARBANE, 01/01/2004
4 pages
La thérapie génique
Actualités et perspectives
André Edmond MEGARBANE, 01/01/2004
7 pages
La trisomie 21
halte au surhandicap
André Edmond MEGARBANE, 01/01/1999
4 pages
La trisomie 21
de l'exclusion à l'insertion
André Edmond MEGARBANE, 01/01/1995
5 pages
Le diagnostic présymptomatique des maladies grave à révélation tardive au Liban
Un choix ou une nécessité?
André Edmond MEGARBANE, 01/01/2005
10 pages
Le regard islamique sur la procréation
André Edmond MEGARBANE, 04/01/2002
Le serment d'Hippocrate et la fausse paternité
André Edmond MEGARBANE, 07/01/2002
Le syndrome d'Arlequin
A propos d'un cas
André Edmond MEGARBANE, 01/01/1998
3 pages
Le syndrome de Cokayne au Liban
A propos de 3 cas et revue de la littérature
André Edmond MEGARBANE, 01/01/1999
4 pages
Le syndrome de L'X fragile au Liban
André Edmond MEGARBANE, 01/01/1998
4 pages
Le syndrome de Russel-Silver
Description d'un cas et revue de la littérature
André Edmond MEGARBANE, 01/01/1997
3 pages
L’Hypercholestérolémie familiale
Marianne Sakr ABI FADEL,
L'intervention orthophonique auprès des enfants autistes au Liban
Réalités, besoins et perspectives
André Edmond MEGARBANE, 01/01/2001
2 pages
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
Marianne Sakr ABI FADEL, 14/01/2011
4 pages
Molecular spectrum of autosomal dominant hypercholesterolemia in France
Marianne Sakr ABI FADEL, 01/11/2010
13 pages
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
Marianne Sakr ABI FADEL, 01/04/2009
9 pages
Naître ou ne pas être
André Edmond MEGARBANE, 01/01/2004
15 pages
New gain of functions mutations in PCSK9 and their impact in familial hypercholesterolemia
Marianne Sakr ABI FADEL, 01/06/2011
1 pages
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome
Marianne Sakr ABI FADEL, 01/03/2010
3 pages
PCSK9, du gène à la protéine : un nouvel acteur impliqué dans l'homéostasie du cholestérol
Marianne Sakr ABI FADEL, 11/01/2006
3 pages
PCSK9, nouvelle cible dans le traitement de l’hypercholestérolémie familiale
Marianne Sakr ABI FADEL,
Prévention des problèmes parodontaux chez les trisomiques 21
André Edmond MEGARBANE, 01/01/1998
6 pages
Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents.
Marianne Sakr ABI FADEL, 01/11/2010
24 pages
Tests génétiques présymptomatiques
prévention ou «cartomancie»?
André Edmond MEGARBANE, 05/01/2003
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene
Georges Habib HALABY, Herminé Ishak KHOSEKIAN AYDENIAN, Marianne Sakr ABI FADEL, Marie-Hélène Elias GANNAGE YARED, Sélim Michel JAMBART, 01/07/2009
9 pages
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene
Georges Habib HALABY, Herminé Ishak KHOSEKIAN AYDENIAN, Marianne Sakr ABI FADEL, Marie-Hélène Elias GANNAGE YARED, Sélim Michel JAMBART, 01/07/2009
11 pages
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene
Marianne Sakr ABI FADEL, 01/07/2009
9 pages
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene
Georges Habib HALABY, Herminé Ishak KHOSEKIAN AYDENIAN, Marianne Sakr ABI FADEL, Marie-Hélène Elias GANNAGE YARED, Sélim Michel JAMBART, 01/07/2009
11 pages
Un quatrième phénotype pour l’hypercholestérolémie familiale à transmission autosomique dominante
Marianne Sakr ABI FADEL, 01/01/2008
Utilisation abusive des empreintes génétiques
André Edmond MEGARBANE, 01/01/1998
17 pages
Vers l'identification d'un cinquième gène de l'hypercholestérolémie familiale
Marianne Sakr ABI FADEL, 01/01/2006
1 pages
Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?
André Edmond MEGARBANE, 01/01/1999
3 pages
Congenital deafness, myoclonus epilepsy, psychiatric behavior. Further delineation of the latham-munro syndrome or new syndrome?
André Edmond MEGARBANE, 01/01/1999
5 pages
Genotype-phenotype relationships in berardinelli-seip congenital lipodystrophy
André Edmond MEGARBANE, 01/01/2002
12 pages
Microcephaly, microphthalmia, cataract, optic atrophy, hypotonia, and severe mental retardation in a large consanguineous family: Report of a second family with Micro syndrome or new syndrome
André Edmond MEGARBANE, 01/01/1999
4 pages
Familial mediterranean fever (FMF): from diagnosis to treatment
André Edmond MEGARBANE, 01/01/2004
6 pages
Severe autosomal dominant upper-limb mesomelic dysplasia : report of a second family
André Edmond MEGARBANE, 01/01/2005
3 pages
Molecular study of WISP3 in nine families originating from the middle-east and presenting with progressive pseudorheumatoid dysplasia : Identification of two novel mutations, and description of a founder effect
André Edmond MEGARBANE, 01/01/2005
9 pages
Familial mediterranean fever (FMF) in Lebanon and Jordan : a population genetics study and report of three novel mutations
André Edmond MEGARBANE, 01/01/2005
9 pages
Identification of mutations in CUL7 in 3-M syndrome
André Edmond MEGARBANE, 01/01/2005
6 pages
Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient
André Edmond MEGARBANE, 01/01/2005
5 pages
X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation
André Edmond MEGARBANE, 01/01/2005
5 pages
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
André Edmond MEGARBANE, 01/01/2005
6 pages
Mutations of the catalytic subunit of RAB3GAP cause warburg micro syndrome
André Edmond MEGARBANE, 01/01/2005
3 pages
New form of hidrotic ectodermal dysplasia in a lebanese family
André Edmond MEGARBANE, 01/01/1998
4 pages
Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly
André Edmond MEGARBANE, 01/01/1998
5 pages
The usher syndrome in the lebanese population and further refinement USH2A candidate region
André Edmond MEGARBANE, 01/01/1998
6 pages
A new autosomal recessive oto-facial syndrome with midline malformations
André Edmond MEGARBANE, 01/01/2005
4 pages
Mutation screening in Borjeson-Forssman-Lehmann Syndrome (BFLS) : identification of a novel, de novo PHF6 mutation in a female patient
André Edmond MEGARBANE, 01/01/2006
6 pages
Subcellular distribution of HP1 proteins is altered in ICF syndrome
André Edmond MEGARBANE, 01/01/2005
11 pages
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type : Report of a new patient and review of the literature
André Edmond MEGARBANE, 01/01/2003
5 pages
Clinical homogeneity and genetic heterogeneity in weill-marchesani syndrome
André Edmond MEGARBANE, 01/01/2003
4 pages
Correspondence : Aplasia of the pubic bone in conjunction with hip dislocation
André Edmond MEGARBANE, 07/01/2006
1 pages
Familial mediterranean fever in the syrian population : gene mutation frequencies, carrier rates and phenotype-genotype correlation
André Edmond MEGARBANE, 04/03/2006
Microcephaly, Cutis verticis gyrata of the scalp retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers : A new syndrome
André Edmond MEGARBANE, 01/01/2001
6 pages
Triple dosage of the TWIST gene causes characteristic clinical features of the 7p duplication syndrome
André Edmond MEGARBANE, 01/01/2001
5 pages
Familial mediterranean fever. Pyrin-marenostrin gene study by mutation analysis in lebanese patients
André Edmond MEGARBANE, 01/01/2001
5 pages
Mutations in the human homologue of Gng3lg cause Berardinelli-Seip congenital lipodystrophy linked to chromosome 11q13
André Edmond MEGARBANE, 01/01/2001
6 pages
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita
André Edmond MEGARBANE, 01/01/2001
8 pages
Non-progressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family
André Edmond MEGARBANE, 01/01/2001
4 pages
Chromosome 10p11.2-p12.2 duplication
André Edmond MEGARBANE, 01/01/2001
5 pages
Short stature, peculiar face, joints laxity, joints dislocation, and mental retardation in two sibs. A new MCA/MR syndrome
André Edmond MEGARBANE, 01/01/2001
4 pages
Familial mediterranean fever: association of elevated IgD plasma levels with specific pyrin/marenostrin mutations
André Edmond MEGARBANE, 01/01/2001
6 pages
Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms
André Edmond MEGARBANE, 01/01/2002
4 pages
How many phenotypes in the DTDST family chondrodysplasias?
André Edmond MEGARBANE, 01/01/2002
2 pages
Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls
André Edmond MEGARBANE, 01/01/2002
9 pages
Spondyloepimetaphyseal dysplasia of maroteaux (pseudo-morquio type II syndrome) : report of a new patient and review of the litterature
André Edmond MEGARBANE, 01/01/2004
6 pages
Non-syndromic recessive deafness in Jordan : mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations
André Edmond MEGARBANE, 01/01/2002
4 pages
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
André Edmond MEGARBANE, 01/01/2007
9 pages
Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers : a lebanese study
André Edmond MEGARBANE, 03/01/2006
10 pages
Genetic heterogeneity of autosomal dominant hypercholesterolemia : PCSK9, a third gene involved in the desease
Marianne Sakr ABI FADEL, 01/01/2006
10 pages
Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features
André Edmond MEGARBANE, 01/01/1997
5 pages
High resolution physical mapping of a 6.7 Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-21q22.1
André Edmond MEGARBANE, 01/01/1997
9 pages
Cystic fibrosis in Lebanon: distribution of CFTR mutations among arab communities
André Edmond MEGARBANE, 01/01/1997
5 pages
A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities
André Edmond MEGARBANE, 01/01/2003
7 pages
Primary hypergonadotropic hypogonadism, partial alopecia, and mullerian hypoplasia : Report of a second family with additional findings
André Edmond MEGARBANE, 01/01/2003
4 pages
Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation
André Edmond MEGARBANE, 01/01/2003
4 pages
Dysmorphology in literature : describing is not condoning
André Edmond MEGARBANE, 01/01/2003
1 pages
Congenital malformations and genetic diseases in comic books
André Edmond MEGARBANE, 01/01/2003
12 pages
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
André Edmond MEGARBANE, 01/01/2003
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts
André Edmond MEGARBANE, 01/01/2003
4 pages
Congenital erythropoietic porphyria : report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling
André Edmond MEGARBANE, 01/01/2004
3 pages
Genetic screening of fourteen mutations in Jordanian familial mediterranean fever patients
André Edmond MEGARBANE, 01/01/2000
Interstitial duplication of the short arm of chromosome 2
André Edmond MEGARBANE, 01/01/1997
4 pages
Chromosome 7q22-q31 duplication : Report of a new case and review
André Edmond MEGARBANE, 01/01/2000
5 pages
Tetraamelia associated with a syrinx. Fortuitous association or clue?
André Edmond MEGARBANE, 01/01/1997
5 pages
Congenital glaucoma, limb deformities, skeletal dysplasia, and facial dysmorphism
André Edmond MEGARBANE, 01/01/1997
5 pages
Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: A possible new MCA/MR syndrome
André Edmond MEGARBANE, 01/01/1997
6 pages
Unusual findings in two neonates with CHARGE association
André Edmond MEGARBANE, 01/01/1996
1 pages
A severe congenital neonatal progeroid syndrome
André Edmond MEGARBANE, 01/01/1997
5 pages
Rapid fluorescence in-situ hybridization on interphasic nuclei to discriminate between homozygous and heterozygous transgenic mice
André Edmond MEGARBANE, 01/01/1996
7 pages
Homozygosity mapping of a weill-marchesani syndrome locus to chromosome 19p13.3-p13.2
André Edmond MEGARBANE, 01/01/2002
5 pages
X-linked centrolobular myopathy: case report and review of the literature
André Edmond MEGARBANE, 01/01/2000
2 pages
X-linked transposition of the great arteries in a family with incomplete penetrance in males with ZIC3
André Edmond MEGARBANE, 01/01/2000
5 pages
Mutation analysis in lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase
André Edmond MEGARBANE, 01/01/2000
6 pages
Overlap between baller-gerold and rothmund-thomson syndrome
André Edmond MEGARBANE, 01/01/2000
3 pages
Frontal pseudo-tumoral form of adrenoleukodystrophy
André Edmond MEGARBANE, 01/01/2000
64 pages
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9
Marianne Sakr ABI FADEL, 08/01/2004
5 pages
Leukodystrophy associated with oligodontia in a large inbred family : Fortuitous association or new entity?
André Edmond MEGARBANE, 01/01/2003
6 pages
Craniosynostosis, telecanthus, scalp hair abnormalities, sensorineural deafness in two sibs
André Edmond MEGARBANE, 01/01/2002
5 pages
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
André Edmond MEGARBANE, 01/01/2002
3 pages
A novel locus for USHER type I, USH1G, maps to chromosome 17q24-25
André Edmond MEGARBANE, 01/01/2002
3 pages
Homozygosity for a novel DTDST mutation in a child with a "broad-bone-platyspondylic" variant
André Edmond MEGARBANE, 01/01/1999
6 pages
Reverse-hybridization v/s DNA sequencing in the molecular diagnosis of familial mediterranean fever
André Edmond MEGARBANE, 01/01/2004
4 pages
Characterization of a germline mosaicism in families with lowe syndrome, and identification of seven novel mutations in the OCRL1 gene
André Edmond MEGARBANE, 01/01/1999
9 pages
Microcephaly, microphthalmia, short stature and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?
André Edmond MEGARBANE, 01/01/1999
7 pages
Unknown syndrome in two male sibs with facial dysmorphia, camptodactyly, fifth fingers clinodactyly, 2/3 toes syndactyly and mental retardation
André Edmond MEGARBANE, 01/01/1999
6 pages
Autosomal dominant atrial septal defect associated to cardiac and non-cardiac defects
André Edmond MEGARBANE, 01/01/1999
8 pages
Homozygosity mapping of a dyggve-melchior-clausen syndrome gene to chromosome 18q21.1
André Edmond MEGARBANE, 01/01/2002
4 pages
A new congenital dwarfism with narrowness of the cervical spine, subglottic, stenosis, hip dislocation, and severe delayed bone age
André Edmond MEGARBANE, 01/01/2002
3 pages
Bardet-Biedl syndrome : a unique family for a major gene (BBS10)
André Edmond MEGARBANE, 22/11/2006
4 pages
A new form of autosomal recessive Charcot-Marie-Tooth linked to 19q13. Exclusion of MAG gene
André Edmond MEGARBANE, 01/01/2000
8 pages
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome : report of a new family with additional features and review
André Edmond MEGARBANE, 01/01/2004
5 pages
Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age : a new syndrome?
André Edmond MEGARBANE, 01/01/2004
4 pages
A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement
André Edmond MEGARBANE, 06/12/2006
ADAMTS10 mutations in autosomal recessive weill-marchesani syndrome
André Edmond MEGARBANE, 01/01/2004
6 pages
A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa
André Edmond MEGARBANE, 01/01/2004
4 pages
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
André Edmond MEGARBANE, 01/01/2004
4 pages
A cytogenetic register of down syndrome in Lebanon
André Edmond MEGARBANE, 01/01/1998
6 pages
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
André Edmond MEGARBANE, 01/01/2006
10 pages
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Marianne Sakr ABI FADEL, 05/01/2003
3 pages
Heterozygous TGFBR2 Mutations in Marfan Syndrome
Marianne Sakr ABI FADEL, 07/01/2004
6 pages
NARC-1 /PCSK9 And Its Natural Mutants : Zymogen Cleavage And Effects on The Low Density Lipoprotein (LDL) Receptor And LDL Cholesterol
Marianne Sakr ABI FADEL, 01/01/2004
10 pages
Novel Mutations of The PCSK9 Gene Cause Variable Phenotype of Autosomal Dominant
Marianne Sakr ABI FADEL, 11/01/2005
10 pages
PC9, a new actor in autosomal dominant hypercholesterolemia
Marianne Sakr ABI FADEL, 01/01/2006
10 pages
The UMD-LDLR database : Additions to the software and 490 new entries to the database
Marianne Sakr ABI FADEL, 01/01/2002
7 pages
Short stature, abnormal face, joints laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two sibs. A New MCA/MR syndrome
André Edmond MEGARBANE, 01/01/2001
4 pages
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
Marianne Sakr ABI FADEL, 01/11/2005
2 pages
PCSK9
Marianne Sakr ABI FADEL,
PCSK9, a new therapeutic target in hypercholesterolemia
Marianne Sakr ABI FADEL,
Familial Hypercholesterolemia : from the discovery of PCSK9 to the next steps
Marianne Sakr ABI FADEL,
PCSK9 : From gene and variants to protein and plasma levels
Marianne Sakr ABI FADEL, 01/06/2010
1 pages
A fourth phenotype for autosomal dominant hypercholesterolemia
Marianne Sakr ABI FADEL, 01/06/2007
1 pages
PCSK9, from gene to protein: a new protagonist implicated in autosomal dominant hypercholesterolemia
Marianne Sakr ABI FADEL, 01/06/2007
1 pages
Identification of a fifth locus involved in Autosomal dominant Hypercholesterolemia
Marianne Sakr ABI FADEL, 01/06/2005
1 pages
PCSK9: Molecular functions, polymorphisms, and risk for atherosclerotic disease
Marianne Sakr ABI FADEL, 01/01/2010
Characterisation of a fourth form of autosomal dominant hypercholesterolemia in a French family
Marianne Sakr ABI FADEL, 01/01/2006
1 pages
Osteoporosis pseudoglioma syndrome : A novel LRP5 mutation
Marianne Sakr ABI FADEL, 01/06/2005
1 pages
Caracterisation of a fourth form of Autosomal dominant Hypercholesterolemia in a French Family
Marianne Sakr ABI FADEL, 01/01/2005
1 pages
PCSK9, a new target in hypercholesterolemia
Marianne Sakr ABI FADEL,
PCSK9 : from gene and variant to protein and phenotype
Marianne Sakr ABI FADEL,
PCSK9 from gene to therapeutic Target
Marianne Sakr ABI FADEL,
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia
Joseph Maroun MAARRAWI,
4 pages
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
Marianne Sakr ABI FADEL, 07/01/2012
5 pages
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Marianne Sakr ABI FADEL, 01/08/2012
6 pages
Marianne Sakr ABI FADEL,
PCSK9, a new target in hypercholesterolemia
Marianne Sakr ABI FADEL,
New Syndrome? Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
Georges Sami KHALIL, 01/01/1999
5 pages
PCSK9, from gene and variant to protein and phenotype : a new therapeutic target in hypercholesterolemia
Marianne Sakr ABI FADEL, 01/01/2009
Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method
Marianne Sakr ABI FADEL, 01/02/2003
3 pages
A new familial syndrome with abnormal facial features, abnormal EEG, and mental retardation
André Edmond MEGARBANE, 01/01/2001
5 pages
Tibial/femoral hypoplasia with "hook" pelvis : a potentially unique dysostosis
André Edmond MEGARBANE, 01/01/2002
3 pages
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
André Edmond MEGARBANE, 01/01/2003
6 pages
Branchio-oculo-facial syndrome with a white forelock
André Edmond MEGARBANE, 01/01/1998
3 pages
Four sibs with multiple osseous malformations, cataract, deafness and mental retardation: A new MCA/MR syndrome
André Edmond MEGARBANE, 01/01/1998
4 pages
Pitfalls of homozygosity mapping : an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism
André Edmond MEGARBANE, 01/01/2006
9 pages
Brachytelephalangy, short stature, mental retardation and dysmorphic features in two sibs. New MCA/MR syndrome?
André Edmond MEGARBANE, 01/01/1997
6 pages
HLA-C molecular characterization of a Lebanese population and genetic structure of 39 populations from Europe to India-Pakistan
André Edmond MEGARBANE, 01/01/2006
14 pages
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
André Edmond MEGARBANE, 01/01/2006
4 pages
Population structure in the mediterranean basin : A Y chromosome perspective
André Edmond MEGARBANE, 01/01/2006
19 pages
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis : First report of a mexican patient and genotype-phenotype correlation
André Edmond MEGARBANE, 01/01/2004
3 pages
Further delineation of the odonto-onycho-dermal dysplasia syndrome
André Edmond MEGARBANE, 01/01/2004
5 pages
A newly recognized chondrodysplasia with multiple dislocations
André Edmond MEGARBANE, 01/01/2004
3 pages
Ocular pathology in congenital heart disease
André Edmond MEGARBANE, 01/01/2005
6 pages
Revisiting the craniosynostosis-radial ray hypoplasia association : baller-gerold syndrome caused by mutations in RECQL4 gene
André Edmond MEGARBANE, 01/01/2006
5 pages
Craniosynostosis and marfanoid habitus without mental retardation: Report on a third case
André Edmond MEGARBANE, 01/01/1998
2 pages
Prenatal ultrasonography, clinical and radiological findings in a boy with fibrochondrogenesis
André Edmond MEGARBANE, 01/01/1998
5 pages
Brown-vialetto-van laere syndrome in a large inbred lebanese family. Confirmation of the autosomal recessive mode of inheritance?
André Edmond MEGARBANE, 01/01/2000
5 pages
Exclusion of chromosome 9 helps identifiying mild variants of acromesomelic dysplasia
André Edmond MEGARBANE, 01/01/2000
3 pages
Exclusion of chromosome 15q21.1 in autosomal recessive weill-marchesani syndrome in an inbred lebanese family
André Edmond MEGARBANE, 01/01/2000
6 pages
New autosomal recessive cerebellar ataxia syndrome in a large inbred lebanese family
André Edmond MEGARBANE, 01/01/2001
7 pages
Heterozygous and homozygous mutations in PITX3 in a large lebanese hamily with posterior polar cataracts and neurodevelopmental abnormalities
André Edmond MEGARBANE, 01/01/2006
7 pages
Congenital exfoliative erythroderma
André Edmond MEGARBANE, 01/01/2004
2 pages
Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened lebanese males : clinical implications
André Edmond MEGARBANE, 01/01/2006
3 pages
Severe mental retardation and marfanoid habitus in a young lebanese male
André Edmond MEGARBANE, 01/01/1997
6 pages
A new autosomal recessive non-progressive congenital cerebellar ataxia, associated with mental retardation, optic atrophy and skin abnormalities (CAMOS), maps to chromosome 15q24-q26 in a large consanguineous lebanese druze family
André Edmond MEGARBANE, 01/01/2002
5 pages
Familial mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method
André Edmond MEGARBANE, 01/01/2002
3 pages
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic translocation
André Edmond MEGARBANE, 01/01/2002
6 pages
Non-collagenic etiologies of muscle weakness with joint deformities : about two paradigmatic case reports
André Edmond MEGARBANE, 24/10/2005
2 pages
Mutations in OSTM1 (Grey Lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
André Edmond MEGARBANE, 01/01/2006
8 pages
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal subunit
André Edmond MEGARBANE, 01/01/2006
10 pages
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase
André Edmond MEGARBANE, 01/01/2006
14 pages
Analysis of GJB2 mutation : evidence for a mediterranean ancestor for the 35delG mutation
André Edmond MEGARBANE, 01/01/2005
2 pages
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures
André Edmond MEGARBANE, 01/01/2005
3 pages
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
André Edmond MEGARBANE, 01/01/2006
4 pages
Amyloidosis in familial mediterranean fever patients : correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
André Edmond MEGARBANE, 01/01/2004
4 pages
An autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy
André Edmond MEGARBANE, 01/01/2002
4 pages
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
André Edmond MEGARBANE, 01/01/2005
8 pages
Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia : macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
André Edmond MEGARBANE, 15/01/2003
4 pages
A mutation in PRX is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
André Edmond MEGARBANE, 01/01/2001
7 pages
Autosomal recessive non-syndromic hearing loss in lebanese population. Prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
André Edmond MEGARBANE, 01/01/2001
Five mandibular incisors : an autosomal recessive trait?
André Edmond MEGARBANE, 01/01/2004
3 pages
New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations
André Edmond MEGARBANE, 01/01/2004
4 pages
Early lethal autosomal recessive enterocolitis : report of a second family
André Edmond MEGARBANE, 01/01/2007
2 pages
Autosomal recessive cerebellar hypoplasia with a short stature in a large inbred lebanese family
André Edmond MEGARBANE, 01/01/1999
3 pages
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