Andre Megarbane

Summary

Country: Lebanon

Publications

  1. ncbi Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth, Liban, France
    Clin Dysmorphol 6:239-44. 1997
  2. ncbi Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 116:381-4. 2003
  3. ncbi X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation
    H Megarbane
    Service de Dermatologie, Hotel Dieu de France, Beirut, Lebanon
    Genet Couns 16:85-9. 2005
  4. ncbi An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy
    Andre Megarbane
    Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Paris, France
    J Rheumatol 29:1084-7. 2002
  5. ncbi Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Genet Couns 13:123-31. 2002
  6. ncbi Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 112:70-4. 2002
  7. ncbi Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 116:184-7. 2003
  8. ncbi Congenital malformations and genetic diseases in comic books
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Genet Couns 14:3-14. 2003
  9. ncbi Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings
    A Megarbane
    Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon
    Am J Med Genet A 119:214-7. 2003
  10. ncbi A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 120:276-82. 2003

Detail Information

Publications76

  1. ncbi Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth, Liban, France
    Clin Dysmorphol 6:239-44. 1997
    ..Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised...
  2. ncbi Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 116:381-4. 2003
    ..Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised...
  3. ncbi X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation
    H Megarbane
    Service de Dermatologie, Hotel Dieu de France, Beirut, Lebanon
    Genet Couns 16:85-9. 2005
    ..These features correspond to a rare genodermatosis, the X-linked reticulate pigmentary disorder with systemic manifestations. Skewed X-inactivation patterns were detected in the mother's lymphocytes...
  4. ncbi An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy
    Andre Megarbane
    Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Paris, France
    J Rheumatol 29:1084-7. 2002
    ..This syndrome may not have been previously reported...
  5. ncbi Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Genet Couns 13:123-31. 2002
    ..Results of all laboratory investigations were normal. Review of the literature, of the London Dysmorphology Data Base and POSSUM did not yield to any diagnosis. Whether these patients present a new MCA/MR syndrome is discussed...
  6. ncbi Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 112:70-4. 2002
    ..The boy's parents are first cousins, suggesting recessive inheritance. To the best of our knowledge, this association has not been reported before, and may be considered a novel syndrome...
  7. ncbi Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 116:184-7. 2003
    ..Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature...
  8. ncbi Congenital malformations and genetic diseases in comic books
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Genet Couns 14:3-14. 2003
    ....
  9. ncbi Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings
    A Megarbane
    Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon
    Am J Med Genet A 119:214-7. 2003
    ..Their parents are first cousins. Despite some clinical differences, their features were very close to a family described with such an association by Al-Awadi et al. [1985: Am J Med Genet 22:619-622] in Kuwait...
  10. ncbi A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 120:276-82. 2003
    ..Differential diagnosis is discussed and the possibility of the report of a new autosomal dominant type of branchiogenic-deafness syndrome with variable expressivity is raised...
  11. ncbi Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, 42 rue de Grenelle, Beyrouth, Liban, France
    Am J Med Genet A 122:252-6. 2003
    ..This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity...
  12. ncbi Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review
    Hala Megarbane
    Service de Dermatologie, Hotel Dieu de France, Beirut, Lebanon
    Am J Med Genet A 124:323-7. 2004
    ..The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes...
  13. ncbi Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 125:57-60. 2004
    ..However, a delayed bone age was noted. The boy's parents are first cousins. To the best of our knowledge, this constellation of anomalies has not been reported before, and may be considered a new syndrome...
  14. ncbi Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 125:61-6. 2004
    ..These features are very close to a very rare entity: the spondyloepimetaphyseal dysplasia (SEMD) of Maroteaux or "pseudo-Morquio" type II syndrome, whose specific radiological characteristics are found in this case...
  15. ncbi New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 128:414-7. 2004
    ..Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised...
  16. ncbi A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 130:176-80. 2004
    ..To the best of our knowledge, this association had not been previously reported, and may be considered a newly recognized syndrome...
  17. ncbi A new autosomal recessive oto-facial syndrome with midline malformations
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 132:398-401. 2005
    ..Differential diagnosis is discussed, and the possibility of a newly recognized autosomal recessive syndrome is raised...
  18. ncbi Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs
    Andre Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 109:323-7. 2002
    ..We reexamined this family and here review the literature focusing on the major clinical findings, and suggest that their clinical manifestations may represent a previously unreported syndrome...
  19. ncbi Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon, France
    Am J Med Genet 108:69-74. 2002
    ..The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed...
  20. ncbi Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 92:117-21. 2000
    ..We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance...
  21. ncbi Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Clin Genet 56:71-6. 1999
    ..Molecular analysis may be of particular value in such atypical cases...
  22. ncbi Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 83:82-7. 1999
    ..The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome...
  23. ncbi Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 83:193-200. 1999
    ..The mutation does not map to any known locus involved in atrial septal defect or conduction block...
  24. ncbi New form of hidrotic ectodermal dysplasia in a Lebanese family
    A Megarbane
    Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 75:196-9. 1998
    ..Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is raised...
  25. ncbi Clinical manifestation of a severe neonatal progeroid syndrome
    A Megarbane
    Medical Genetics Laboratory, Faculty of Medicine, Saint Joseph University, Paris, France
    Clin Genet 51:200-4. 1997
    ..The clinical appearance of this reported patient is compared to the previously published cases with severe neonatal progeroid syndromes...
  26. ncbi Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family
    A Megarbane
    Laboratoires de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Paris, France
    Am J Med Genet 73:67-71. 1997
    ..Despite some clinical differences, their anomalies are very similar to those seen in a new and rare autosomal recessive entity described by ter Haar et al. [1982]. Differential diagnoses are discussed...
  27. ncbi Chromosome 7q22-q31 duplication: report of a new case and review
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 95:164-8. 2000
    ..The importance in better analyzing further cases by new molecular cytogenetics techniques is raised...
  28. ncbi Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Clin Genet 58:473-8. 2000
    ..1 in the latter. Linkage analysis at 15q21.1 in this Lebanese family allowed us to exclude the role of this region in the etiology of the syndrome. Speculations regarding the pathogenesis of the disorder are discussed...
  29. ncbi Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 98:244-9. 2001
    ..A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new syndrome...
  30. ncbi A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation
    A Megarbane
    Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Clin Dysmorphol 10:129-33. 2001
    ..The girls' parents originate from the same village. Although the findings resemble the recently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome...
  31. ncbi New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 101:135-41. 2001
    ..Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed...
  32. ncbi Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome
    A Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 102:153-6. 2001
    ..The parents are first cousins. To the best of our knowledge, this combination of multiple congenital anomalies and mental retardation has not been reported before...
  33. ncbi Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome
    A Megarbane
    Unité de Génétique Médicale Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 104:221-4. 2001
    ..Their parents are first cousins. To the best of our knowledge, this syndrome has not been reported before...
  34. ncbi Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 104:204-8. 2001
    ..2-->p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited...
  35. doi Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation
    Myrna Medlej-Hashim
    Unité de Génétique Médicale et laboratoire associé INSERM à l unité UMR_S 910, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Eur J Med Genet 54:50-4. 2011
    ..A phenotypic variability was also observed. The haplotype carrying the p.[M694I] allele, detected in all the family branches, was well conserved and therefore seems to be the ancestral one...
  36. doi How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
    Aimé Ravel
    Institut Jerome Lejeune, Paris, France
    Am J Med Genet A 155:880-4. 2011
    ..2011 Wiley-Liss, Inc...
  37. ncbi Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
    Myrna Medlej-Hashim
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth, Lebanon
    Eur J Med Genet 48:412-20. 2005
    ..The phenotypic heterogeneity of the FMF could then originate both from genetic causes like allelic heterogeneity or modulating genes, and cultural background facing the physiological consequences of genotypes at risk...
  38. pmc 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
    Myrna Medlej-Hashim
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    BMC Med Genet 11:87. 2010
    ..This study aims at studying the MEFV gene splicing pattern in heterozygous FMF patients and healthy individuals, in an attempt to understand the mechanism underlying the disease in these patients...
  39. ncbi Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations
    Nadine Jalkh
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Ann Hum Genet 72:41-7. 2008
    ....
  40. ncbi Subcellular distribution of HP1 proteins is altered in ICF syndrome
    Judith J Luciani
    INSERM U 491, Faculte de Medecine, Marseille, France
    Eur J Hum Genet 13:41-51. 2005
    ..Finally, satellite DNA length polymorphism could affect the efficiency of heterochromatin condensation and thus contribute to the variability of the ICF phenotype...
  41. ncbi 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
    Valerie Delague
    Laboratoire de Genetique Moleculaire, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Neurogenetics 4:23-7. 2002
    ..6-cM interval on chromosome 15q24-15q26...
  42. pmc Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
    Carine Le Goff
    Department of Genetics, Universite Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 89:7-14. 2011
    ..Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes...
  43. pmc Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1
    Hanen Belguith
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth, Liban
    Eur J Hum Genet 17:122-4. 2009
    ..A maximum LOD score of 3.99 was obtained with two markers, D10S199 and D10S220. The screening of two candidate genes, CX40.1 and FXYD4, failed to reveal any disease-causing mutations...
  44. pmc Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia
    Lynn Adaimy
    Unite de Genetique Medicale, Faculte de Medecine, Universite Saint Joseph de Beyrouth, Paris, France
    Am J Hum Genet 81:821-8. 2007
    ....
  45. ncbi 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
    Valerie Delague
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 138:118-26. 2005
    ..156C --> A (C52X). Interestingly, in the latter families, the C52X mutation was always found associated with a novel c.248G --> A (G83E) variation, suggesting the existence of a founder effect...
  46. ncbi A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 140:1491-6. 2006
    ..The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo-skeletal syndrome is raised...
  47. doi Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome
    Andre Megarbane
    Unité de Génétique Médicale et Laboratoire Associé INSERM UMR_S, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 155:1147-51. 2011
    ..The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed...
  48. doi Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia
    Andre Megarbane
    Unité de Génétique Médicale et laboratoire associé INSERM à l unité UMR_S 910, Pôle Technologie Santé, Université Saint Joseph, Beirut, Lebanon
    Eur J Med Genet 56:32-5. 2013
    ..Our findings confirm the role of SNX10 in autosomal recessive osteopetrosis and help to better define the core set of manifestations associated with this new pathological entity...
  49. ncbi Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis
    Noelle Souraty
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Eur J Med Genet 50:188-99. 2007
    ..Macrocephaly, strabismus, and brain malformations were relatively less common. Mutations were identified in two genes: TCIRG1 and OSTM1. Phenotype-genotype correlation is discussed...
  50. doi 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
    Hala Megarbane
    Department of Dermatology, Balamand University, Saint Georges Hospital, Beirut, Lebanon
    J Invest Dermatol 129:1650-5. 2009
    ..To our knowledge, autosomal-recessive CL owing to homozygous mutations in the elastin gene has not been reported previously...
  51. ncbi [Familial Mediterranean Fever (FMF): from diagnosis to treatment]
    Myrna Medlej-Hashim
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth Liban
    Sante 14:261-6. 2004
    ..The most effective treatment for FMF patients is colchicine, which should be taken regularly on a life-long basis. It decreases the frequency and severity of crises and prevents renal amyloidosis...
  52. doi A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22
    Eliane Chouery
    Unité de Génétique Médicale et laboratoire associé INSERM à l unité UMR_S 910, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Neurogenetics 12:73-8. 2011
    ..Sequencing of the whole candidate locus is in progress and should allow the identification of the causative gene in this rare disease, thereby improving the understanding of the physiopathology of this disease...
  53. doi Mutations in TREM2 lead to pure early-onset dementia without bone cysts
    Eliane Chouery
    Genetic Medical Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon
    Hum Mutat 29:E194-204. 2008
    ..To our knowledge, this is the first report of mutations in TREM2 causing a pure dementia...
  54. ncbi Further delineation of the odonto-onycho-dermal dysplasia syndrome
    Hala Megarbane
    Service de Dermatologie, Hotel Dieu de France, Beirut, Lebanon
    Am J Med Genet A 129:193-7. 2004
    ..Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features...
  55. ncbi Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever
    Valerie Delague
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Genet Test 8:65-8. 2004
    ..We conclude that reverse-hybridization provides a very rapid, accurate and easy-to-perform screening method, and, in combination with more comprehensive diagnostic methods, represents an efficient strategy for FMF genotyping...
  56. doi Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
    Andre Megarbane
    Unité de Génétique Médicale et laboratoire associé INSERM à l unité UMR_S 910, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 158:1185-9. 2012
    ..Differential diagnoses and the possibility that we might be reporting on a hitherto unreported syndrome are discussed...
  57. ncbi Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q
    Noelle Souraty
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Eur J Med Genet 50:379-85. 2007
    ..Molecular cytogenetic investigations confirmed that it was an i(18q) and a r(18q). The hypothesis to account for this anomaly and its corresponding phenotype are discussed...
  58. ncbi [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]
    Helene Dollfus
    Laboratoire de génétique médicale EA3949, Faculte de Medecine, Universite Louis Pasteur, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg Cedex, France
    Med Sci (Paris) 22:901-4. 2006
  59. pmc Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation
    Nour Maya N Haddad
    Service d Ophtalmologie, Hotel Dieu de France Hospital, Beirut, Lebanon
    Mol Vis 18:1182-8. 2012
    ..The aim of this study was to investigate the spectrum of mutations in CYP4V2 in Lebanese families, and to characterize the phenotype of patients affected with BCD...
  60. doi Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome
    Cybel Mehawej
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Eur J Med Genet 55:103-8. 2012
    ..R272C (c.814C>T), in the cysteine-rich domain of the protein. These patients are compared with other cases, and a phenotype-genotype correlation is discussed...
  61. pmc Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
    Myrna Medlej-Hashim
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    BMC Med Genet 5:4. 2004
    ....
  62. pmc A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
    Andre Megarbane
    Université Saint Joseph, Beirut, Lebanon
    Eur J Hum Genet 17:1076-9. 2009
    ..Our data highlight the potential of high-resolution homozygosity mapping in small populations with a high rate of inbreeding...
  63. doi A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation
    Samantha Stora
    Institut Jerome Lejeune, Paris, France
    Eur J Med Genet 52:341-3. 2009
    ..Reporting aging patients with genetic syndromes will provide information about their special needs and lead to improvements in their follow-up...
  64. doi Population genetic data for 17 STR markers from Lebanon
    Eliane Chouery
    Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon
    Leg Med (Tokyo) 12:324-6. 2010
    ..Forensic and population genetic parameters for the 17 loci were calculated. We also compared the allele frequencies from this population with other populations in the same geographic vicinity...
  65. ncbi Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations
    Myrna Medlej-Hashim
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Eur J Hum Genet 10:391-4. 2002
    ..The identification of a new NSRD locus, DFNB33, in one Jordanian family, shows the wide genetic heterogeneity that characterizes hearing impairment and the genetic diversity in Middle-Eastern populations...
  66. doi A new familial sclerosing bone dysplasia
    Eliane Chouery
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    J Bone Miner Res 25:676-80. 2010
    ..Differential diagnoses are discussed, and the possibility that this may be a novel clinical entity is raised...
  67. doi A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 146:1865-70. 2008
    ..We are aware of only two previous reports of families with clinical features similar to the Spahr type of metaphyseal chondrodysplasia...
  68. ncbi Identification of mutations in CUL7 in 3-M syndrome
    Celine Huber
    Universite Paris Descartes, Faculte de Medecine, INSERM, AP HP, Hopital Necker Enfants Malades, U393 and Department of Medical Genetics, 149 rue de Sèvres 75015, Paris, France
    Nat Genet 37:1119-24. 2005
    ..These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans...
  69. doi Sib pair with previously unreported skeletal dysplasia
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 146:2916-9. 2008
    ..Differential diagnosis suggests that this is a new type of chondrodysplasia...
  70. doi Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 146:3198-201. 2008
    ..Laboratory exams did not reveal any anomaly except for the hepatic function. Differential diagnoses are discussed and the possibility that we might be reporting on a new metabolic syndrome is raised...
  71. ncbi Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet 112:394-6. 2002
    ..To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before...
  72. pmc ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
    Nathalie Dagoneau
    Department of Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 75:801-6. 2004
    ..We conclude, therefore, that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans...
  73. doi Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome
    Andre Megarbane
    Faculte de Medecine, Unite de Genetique Medicale, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 152:2297-300. 2010
    ..Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed...
  74. ncbi Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 143:1782-7. 2007
    ..A clinical follow-up of the latter patient is also reported...
  75. ncbi BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
    Corinne Stoetzel
    EA Laboratoire de Génétique Médicale, Faculte de Medecine, Universite Louis Pasteur, 11 rue Humann, 67000 Strasbourg, France
    J Hum Genet 51:81-4. 2006
    ..Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions...
  76. doi Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene
    Hala Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 146:2657-62. 2008
    ....