A G Rajab

Summary

Affiliation: Sultan Qaboos University
Country: Sultanate of Oman

Publications

  1. ncbi request reprint Common autosomal recessive diseases in Oman derived from a hospital-based registry
    A Rajab
    Genetic Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, Sultanate of Oman
    Community Genet 8:27-30. 2005
  2. doi request reprint Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 146:965-76. 2008
  3. ncbi request reprint A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman, Oman
    Am J Med Genet A 143:2761-7. 2007
  4. ncbi request reprint Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 134:151-7. 2005
  5. ncbi request reprint Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10
    Dominic R A White
    Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Eur J Hum Genet 15:173-8. 2007
  6. ncbi request reprint Study of hemoglobinopathies in Oman through a national register
    A G Rajab
    Genetic Blood Disorders Unit, DGHA, Ministry of Health, PO Box 880, Muscat 113, Sultanate of Oman
    Saudi Med J 21:1168-72. 2000
  7. ncbi request reprint Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet 110:219-25. 2002
  8. ncbi request reprint Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?
    A Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 121:271-6. 2003
  9. pmc An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 140:1504-10. 2006
  10. pmc Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 149:129-37. 2009

Collaborators

Detail Information

Publications19

  1. ncbi request reprint Common autosomal recessive diseases in Oman derived from a hospital-based registry
    A Rajab
    Genetic Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, Sultanate of Oman
    Community Genet 8:27-30. 2005
    ..The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services...
  2. doi request reprint Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 146:965-76. 2008
    ..The known loci for cutis laxa and WSS on 2q31, 5q23-q31, 7q11, 11q13, and 14q32 were excluded. We suggest that WSS and GO are distinct entities with overlapping features...
  3. ncbi request reprint A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman, Oman
    Am J Med Genet A 143:2761-7. 2007
    ..Therefore, this appears to be a distinct genetic cause of lethal microcephaly...
  4. ncbi request reprint Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 134:151-7. 2005
    ..We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs...
  5. ncbi request reprint Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10
    Dominic R A White
    Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Eur J Hum Genet 15:173-8. 2007
    ....
  6. ncbi request reprint Study of hemoglobinopathies in Oman through a national register
    A G Rajab
    Genetic Blood Disorders Unit, DGHA, Ministry of Health, PO Box 880, Muscat 113, Sultanate of Oman
    Saudi Med J 21:1168-72. 2000
    ..A national register of symptomatic hemoglobinopathies has been developed in Oman to facilitate the development of the National Program for the control of genetic blood disorders...
  7. ncbi request reprint Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet 110:219-25. 2002
    ..There was evidence against homozygosity in some cases for the known loci for BSCL, and this group may represent a new clinical syndrome with lipodystrophy at a different genetic location...
  8. ncbi request reprint Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?
    A Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 121:271-6. 2003
    ..The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance...
  9. pmc An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 140:1504-10. 2006
    ..There was phenotypic variability among different individuals, but spastic diplegia, microcephaly, and mental retardation were three constant traits present in all affected individuals...
  10. pmc Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 149:129-37. 2009
    ..17. The Chromosome 2 locus is novel and the clinical presentation displays features distinguishing the condition from either Coats' or AGS, making this a new variant or possibly a new disorder of inherited brain calcification...
  11. pmc Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
    Anna Rajab
    Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman
    PLoS Genet 6:e1000874. 2010
    ..The loss of caveolae was confirmed by Atomic Force Microscopy (AFM) in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae...
  12. ncbi request reprint Incidence of chromosome abnormalities in the Sultanate of Oman
    Mallana T Goud
    Department of Public Health Laboratories, Central Public Health Laboratories, Directorate General of Health Services, Ministry of Health, Muscat, Post Box 393, Postal Code 113, Sultanate of Oman
    Saudi Med J 26:1951-7. 2005
    ..Secondly, to study the frequency of chromosomal abnormalities in these patients and to compare our results with those reported elsewhere...
  13. ncbi request reprint Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman
    Tadakal Mallana Goud
    Central Public Health Laboratories, Darseit, Muscat, PO Box 393, Postal Code 113, Sultanate of Oman
    Reprod Biomed Online 18:424-9. 2009
    ..Cytogenetic findings could provide valuable information for genetic counselling and allow monitoring of future pregnancies by prenatal diagnosis in couples with a history of recurrent miscarriage...
  14. doi request reprint Extended molecular spectrum of beta- and alpha-thalassemia in Oman
    Suha M Hassan
    Darsait Molecular Genetics Laboratory, Directorate General of Health Affairs, Muscat, Sultanate of Oman
    Hemoglobin 34:127-34. 2010
    ..3%). These data will contribute to the implementation of a country-wide service for early molecular detection of hemoglobinopathies and for providing genetic counseling following premarital screening...
  15. ncbi request reprint Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency
    Mirko Pinotti
    Department of Biochemistry and Molecular Biology, University of Ferara, Ferrara, Italy
    Thromb Haemost 89:243-8. 2003
    ..In addition, this study indicates that the hemorrhagic heterogeneity observed in FX deficiencies is only partially explained by molecular analysis of FX gene...
  16. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  17. pmc Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome
    Hans Christian Hennies
    Gene Mapping Centre and Department of Molecular Genetics, Max Delbruck Centre for Molecular Medicine, Berlin, Germany
    Am J Hum Genet 75:138-45. 2004
    ..The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome...
  18. ncbi request reprint Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci
    Kirsten Heathcote
    Medical Genetics Unit, Department of Child Health, St George s Hospital Medical School, London, UK
    Diabetes 51:1291-3. 2002
    ..However, two sibships (four subjects) did not map to either locus, raising the possibility of more than two lipodystrophy loci within the Oman population...
  19. pmc Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
    Am J Hum Genet 79:303-12. 2006
    ....