Doris Taha

Summary

Affiliation: King Faisal Specialist Hospital and Research Centre
Country: Saudi Arabia

Publications

  1. ncbi request reprint Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?
    Doris Taha
    Division of Pediatric Endocrinology, King Faisal Specialist Hospital and Research Center, PO Box 40047, Jeddah 21499, Kingdom of Saudi Arabia
    Am J Med Genet A 122:269-73. 2003
  2. ncbi request reprint A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Kingdom of Saudi Arabia
    Am J Med Genet A 143:2835-7. 2007
  3. ncbi request reprint Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
    J Pediatr Endocrinol Metab 21:581-6. 2008
  4. pmc The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: a hospital-based study
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, PO Box 40047, Jeddah 21499, Saudi Arabia
    Ann Saudi Med 29:357-60. 2009
  5. ncbi request reprint Absent or delayed adrenarche in Pit-1/POU1F1 deficiency
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Horm Res 64:175-9. 2005
  6. ncbi request reprint Type 2 diabetes mellitus in African-American adolescents: impaired beta-cell function in the face of severe insulin resistance
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
    J Pediatr Endocrinol Metab 19:135-42. 2006
  7. doi request reprint Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Pediatr Diabetes 9:240-4. 2008
  8. ncbi request reprint Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Am J Med Genet A 131:194-9. 2004
  9. ncbi request reprint Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review
    Omar Abu-Sa'da
    Division of General Pediatrics, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Kingdom of Saudi Arabia
    Clin Dysmorphol 14:191-6. 2005
  10. ncbi request reprint Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis
    Walid El-Naggar
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Kingdom of Saudi Arabia
    Pediatr Nephrol 20:1336-9. 2005

Collaborators

  • Lourdes Ibanez
  • Michel Polak
  • Martine Vaxillaire
  • Francis de Zegher
  • Vatcharapan Umpaichitra
  • Mary Ann Banerji
  • P Gissen
  • Primus-E Mullis
  • Thomas Lücke
  • Cornelius F Boerkoel
  • Pierre Bougneres
  • Jean Jacques Robert
  • Yumi Asakura
  • Catherine Diatloff-Zito
  • Melinda D Maryniuk
  • Valérie Senée
  • Sara Sebnem Kilic
  • J Marietta Clewing
  • Anja Stein
  • Beate Schmidt
  • Jean Luc André
  • Petra Lamfers
  • Jorge M Saraiva
  • Emily A Sloan
  • Radovan Bogdanovic
  • Isabel Cordeiro
  • Sandra Cockfield
  • Georges Deschenes
  • Stefan Fründ
  • Walid El-Naggar
  • Omar Abu-Sa'da
  • Maha Barbar
  • Cecile Julier
  • Marc Nicolino
  • Natasa Stajic
  • Nihal Ozdemir
  • Onur Sakallioglu
  • David Milford
  • Yan Huang
  • Lawrence Shoemaker
  • David Goodman
  • Bertram F Pontz
  • Barbara Hinkelmann
  • Stavroula Psoni
  • Cristina Rusu
  • Silvia Majore
  • Encarna Guillen-Navarro
  • Nathalie Biebuyck-Gouge
  • Laure Collard
  • Karel Cutka
  • Helen Fryssira
  • Sophie Taque
  • Harika Alpay
  • Herbert Reichenbach
  • Newton A C S Wong
  • Dominique Bonneau
  • Belde Kasap
  • Jane Tizard
  • Willem Proesmans
  • Sabine Sigaudy
  • Guiliana Lama
  • Chantal Loirat
  • Kunho Choi
  • Flora Sotsiou
  • Sarah F Smithson
  • Valerie Cormier-Daire
  • Pierre Cochat
  • Michel Tsimaratos
  • Silke Reif
  • Asbjørg Stray-Pedersen
  • Denis Morin
  • Caterina Cancrini
  • Karlien Cransberg
  • Helen Georgaki
  • Maria Kanariou
  • Graham Smith
  • Shu Lou
  • Jochen H H Ehrich
  • Celine Charon
  • Herve Blanc
  • Daorong Feng
  • Douglas R Cavener
  • Pascal Boileau
  • Claude Chelala
  • Sabine Duchatelet
  • Jack Christophe Cossec
  • Dorothea Wand
  • J Williamson Balfe
  • Ilkka Kaitila
  • Leah I Elizondo

Detail Information

Publications16

  1. ncbi request reprint Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?
    Doris Taha
    Division of Pediatric Endocrinology, King Faisal Specialist Hospital and Research Center, PO Box 40047, Jeddah 21499, Kingdom of Saudi Arabia
    Am J Med Genet A 122:269-73. 2003
    ..Mutation analysis for several candidate genes is warranted...
  2. ncbi request reprint A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Kingdom of Saudi Arabia
    Am J Med Genet A 143:2835-7. 2007
  3. ncbi request reprint Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
    J Pediatr Endocrinol Metab 21:581-6. 2008
    ..Mutations in GLUT2, the gene for facilitative glucose transporter protein 2 (GLUT2), cause FBS...
  4. pmc The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: a hospital-based study
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, PO Box 40047, Jeddah 21499, Saudi Arabia
    Ann Saudi Med 29:357-60. 2009
    ..We assessed the distribution of risk factors associated with the metabolic syndrome in a group of obese Saudi children and adolescents. No previous studies had addressed this issue in the Saudi pediatric population...
  5. ncbi request reprint Absent or delayed adrenarche in Pit-1/POU1F1 deficiency
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Horm Res 64:175-9. 2005
    ..The absence/delay of adrenarche in POU1F1-deficient patients and the absence/delay of pubarche in POU1F1-deficient females suggest that a POU1F1-dependent factor contributes to the normal development of adrenarche and female pubarche...
  6. ncbi request reprint Type 2 diabetes mellitus in African-American adolescents: impaired beta-cell function in the face of severe insulin resistance
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
    J Pediatr Endocrinol Metab 19:135-42. 2006
    ..4 +/- 0.8 vs 2.9 +/- 0.4; p = 0.0002). Adolescents with DM2 have dyslipidemia, a significant cardiovascular risk factor. Decreased beta-cell function is characteristic of adolescents with DM2 in the presence of severe insulin resistance...
  7. doi request reprint Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Pediatr Diabetes 9:240-4. 2008
    ..The association of permanent neonatal diabetes because of pancreatic agenesis, dysmorphism, and non-specific immunodeficiency is previously undescribed and may represent a new possibly autosomal recessive syndrome...
  8. ncbi request reprint Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia
    Doris Taha
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Am J Med Genet A 131:194-9. 2004
    ..To our knowledge, this is the first report of an SIOD patient with a primary lymphoproliferative disorder (LPD)...
  9. ncbi request reprint Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review
    Omar Abu-Sa'da
    Division of General Pediatrics, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Kingdom of Saudi Arabia
    Clin Dysmorphol 14:191-6. 2005
    ..We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004...
  10. ncbi request reprint Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis
    Walid El-Naggar
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Kingdom of Saudi Arabia
    Pediatr Nephrol 20:1336-9. 2005
    ..Although GGM has been reported previously with nephrocalcinosis, this report is the first to show that renal tubular acidosis could explain the coexistence of nephrocalcinosis in patients with glucose galactose malabsorption...
  11. ncbi request reprint Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome
    Doris Taha
    Ann Saudi Med 25:350; author reply 350. 2005
  12. ncbi request reprint Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
    Valérie Senée
    Institut Pasteur, Génétique des Maladies Infectieuses et Autoimmunes, 75015 Paris, France
    Nat Genet 38:682-7. 2006
    ..These results demonstrate a major role for GLIS3 in the development of pancreatic beta cells and the thyroid, eye, liver and kidney...
  13. ncbi request reprint Schimke immunoosseous dysplasia: suggestions of genetic diversity
    J Marietta Clewing
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 28:273-83. 2007
    ..This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD...
  14. ncbi request reprint Association of migraine-like headaches with Schimke immuno-osseous dysplasia
    Sara Sebnem Kilic
    Department of Pediatrics, Division of Immunology, Uludag University Medical Faculty, Gorukle Bursa, Turkey
    Am J Med Genet A 135:206-10. 2005
    ..We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function...
  15. ncbi request reprint Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
    Valérie Senée
    Génétique des Maladies Infectieuses et Autoimmunes, INSERM E102, Institut Pasteur, Paris, France
    Diabetes 53:1876-83. 2004
    ....
  16. ncbi request reprint Hyperlipidemia in children with type 2 diabetes mellitus
    Doris Taha
    Department of Pediatrics, State University of New York Health Science Center at Brooklyn and Children Medical Center of Brooklyn, 11203, USA
    J Pediatr Endocrinol Metab 15:505-7. 2002
    ..When goals are not met, drug therapy should be considered...