Hala Megarbane
Hala Megarbane
Dermatology Department; University of Balamand
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Year
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia
L Adaimy, E Chouery, H Mégarbané, S Mroueh, V Delague, E Nicolas, ...
The American Journal of Human Genetics 81 (4), 821-828, 2007
2262007
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
H Mégarbané, A Mégarbané
Orphanet journal of rare diseases 6 (1), 29, 2011
512011
A p. C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model
S Claus, J Fischer, H Mégarbané, A Mégarbané, F Jobard, R Debret, ...
Journal of investigative dermatology 128 (6), 1442-1450, 2008
462008
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre-and postnatal growth failure and congenital malformations
JA Ghoch, N Choucair, R Pfäffle, A Mégarbané
European journal of endocrinology 168, K1-K7, 2013
452013
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling
C Ged, H Mégarbané, E Chouery, M Lalanne, A Mégarbané, ...
Journal of investigative dermatology 123 (3), 589-591, 2004
382004
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
E Traboulsi, N Waked, H Mégarbané, A Mégarbané
Ophthalmic genetics 25 (2), 153-156, 2004
362004
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review
H Mégarbané, C Zablit, N Waked, G Lefranc, R Tomb, A Mégarbané
American Journal of Medical Genetics Part A 124 (3), 323-327, 2004
332004
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene
H Mégarbané, C Cluzeau, C Bodemer, S Fraïtag, M Chababi‐Atallah, ...
American Journal of Medical Genetics Part A 146 (20), 2657-2662, 2008
312008
Further delineation of the odonto–onycho–dermal dysplasia syndrome
H Mégarbané, M Haddad, V Delague, J Renoux, N Boehm, A Mégarbané
American Journal of Medical Genetics Part A 129 (2), 193-197, 2004
302004
Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2
D Bornholdt, TP Atkinson, B Bouadjar, B Catteau, H Cox, D De Silva, ...
Human mutation 34 (4), 587-594, 2013
282013
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism
H Mégarbané, J Florence, JO Sass, S Schwonbeck, M Foglio, R De Cid, ...
Journal of investigative dermatology 129 (7), 1650-1655, 2009
262009
Two Observations Raising Questions about Risk Factors of Cutaneous Necrosis Induced by Terlipressin (Glypressin®)
H Mégarbané, S Barete, K Khosrotehrani, H Izzedine, P Moguelet, ...
Dermatology 218 (4), 334-337, 2009
252009
Neonatal rhabdomyosarcoma misdiagnosed as a congenital hemangioma
H Megarbane, F Doz, Y Manach, C Fletcher, F Jaubert, Y de Prost, ...
Pediatric dermatology 28 (3), 299-301, 2011
162011
Temporary henna tattoos and hypertrichosis: A case report and review of the literature
C El Habr, H Mégarbané
Journal of dermatological case reports 9 (2), 36, 2015
102015
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review
E Chouery, C Guissart, H Mégarbané, B Aral, C Nassif, ...
European journal of medical genetics 56 (12), 674-677, 2013
92013
X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.
H Megarbane, N Boehm, E Chouery, R Bernard, N Salem, E Halaby, ...
Genetic counseling (Geneva, Switzerland) 16 (1), 85-89, 2005
82005
New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations
A Mégarbané, L Daou, H Mégarbané, H Cave, E Chouery, A Verloes
American Journal of Medical Genetics Part A 128 (4), 414-417, 2004
82004
Drug-induced linear IgA bullous dermatosis simulating toxic epidermal necrolysis
J Nasr, A Ammoury, C Chouairy, H Mégarbané, C El Habr
Lebanese Medical Journal 103 (1400), 1-4, 2014
72014
Dermatitis artefacta. Report of seven cases
H Megarbane, R Tomb, E Makhoul, E Halaby
Le Journal medical libanais. The Lebanese medical journal 51 (1), 9-14, 2003
62003
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases
P Nair, S Sabbagh, H Mansour, A Fawaz, G Hmaimess, P Noun, ...
Molecular genetics & genomic medicine 6 (6), 1041-1052, 2018
42018
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