Anna Rajab

Summary

Affiliation: Royal Hospital

Publications

  1. 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
  2. doi 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 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. 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
  5. 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
  6. doi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

Detail Information

Publications10

  1. 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...
  2. doi 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 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. 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...
  5. 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...
  6. doi 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...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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...
  10. ncbi 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...