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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Author / Creator:Morimoto, Marie ; Yu, Zhongxin ; Stenzel, Peter ; Clewing, J Marietta ; Najafian, Behzad ; Mayfield, Christy ; Hendson, Glenda ; Weinkauf, Justin G ; Gormley, Andrew K ; Parham, David M ; Ponniah, Umakumaran ; André, Jean-Luc ; Asakura, Yumi ; Basiratnia, Mitra ; Bogdanović, Radovan ; Bokenkamp, Arend ; Bonneau, Dominique ; Buck, Anna ; Charrow, Joel ; Cochat, Pierre ; Cordeiro, Isabel ; Deschenes, Georges ; Fenkçi, M Semin ; Frange, Pierre ; Fründ, Stefan ; Fryssira, Helen ; Guillen-Navarro, Encarna ; Keller, Kory ; Kirmani, Salman ; Kobelka, Christine ; Lamfers, Petra ; Levtchenko, Elena ; Lewis, David B ; Massella, Laura ; McLeod, D Ross ; Milford, David V ; Nobili, François ; Saraiva, Jorge M ; Semerci, C Nur ; Shoemaker, Lawrence ; Stajić, Nataša ; Stein, Anja ; Taha, Doris ; Wand, Dorothea ; Zonana, Jonathan ; Lücke, Thomas ; Boerkoel, Cornelius F
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.70-70, Article 70
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THU230 Consumptive Hypothyroidism Secondary To Hemangioma
Author / Creator:Thirunagari, Rajeev ; Taha, Doris R
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)
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SAT081 Maturity Onset Diabetes Of The Young (MODY) Due To A New BLK Gene Mutation
Author / Creator:Taha, Doris ; Thirunagari, Rajeev ; Adhikari, Amita
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)
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SAT-275 “Nutritional Rickets: Still A Problem In The 21StCentury”
Author / Creator:Thirunagari, Rajeev ; Taha, Doris
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)
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Wolcott-Rallison Syndrome
Author / Creator:Senée, Valérie ; Vattem, Krishna M. ; Delépine, Marc ; Rainbow, Lynn A. ; Haton, Céline ; Lecoq, Annick ; Shaw, Nick J. ; Robert, Jean-Jacques ; Rooman, Raoul ; Diatloff-Zito, Catherine ; Michaud, Jacques L. ; Bin-Abbas, Bassan ; Taha, Doris ; Zabel, Bernard ; Franceschini, Piergiorgio ; Topaloglu, A. Kemal ; Lathrop, G. Mark ; Barrett, Timothy G. ; Nicolino, Marc ; Wek, Ronald C. ; Julier, Cécile
Publisher:American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883
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Growth Hormone Replacement Therapy in Children with Leukemia in Remission
Author / Creator:Taha, Doris R. ; Bastian, William ; Castells, Salvador
Publisher:708 Glen Cove Avenue, Glen Head, NY 11545: SAGE Publications
Journal title:Clinical pediatrics, 2001-08, Vol.40 (8), p.441-445
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Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
Author / Creator:Senée, Valérie ; Chelala, Claude ; Duchatelet, Sabine ; Feng, Daorong ; Blanc, Hervé ; Cossec, Jack-Christophe ; Charon, Céline ; Nicolino, Marc ; Boileau, Pascal ; Cavener, Douglas R ; Bougnères, Pierre ; Taha, Doris ; Julier, Cécile
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-06, Vol.38 (6), p.682-687
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SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)
Author / Creator:Adhikari, Amita ; Taha, Doris ; Senguttuvan, Rajan ; Lakshmanan, Yegappan
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)
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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1
Author / Creator:Thakur, Mili ; Taha, Doris ; Misra, Vinod K.
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2017-04, Vol.1 (4), p.278-282
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SAT-298 A Case of a Forgotten Histrelin Acetate Implant: Can Histrelin Acetate Implants Be Used for More Than a Year?
Author / Creator:KV Krishnaraj, Balasundari ; Adhikari, Amita ; Taha, Doris ; Thirunagari, Rajeev ; Senguttuvan, Rajan
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)
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MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G)
Author / Creator:Taha, Doris ; Adhikari, Amita ; Thirunagari, Rajeev ; Senguttuvan, Rajan ; Flore, Leigh Anne
Publisher:Washington, DC: Endocrine Society
Journal title:Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)
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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
Author / Creator:SENEE, Valérie ; VATTEM, Krishna M ; MICHAUD, Jacques L ; BIN-ABBAS, Bassan ; TAHA, Doris ; ZABEL, Bernard ; FRANCESCHINI, Piergiorgio ; TOPALOGLU, A. Kemal ; LATHROP, G. Mark ; BARRETT, Timothy G ; NICOLINO, Marc ; WEK, Ronald C ; DELEPINE, Marc ; JULIER, Cécile ; RAINBOW, Lynn A ; HATON, Céline ; LECOQ, Annick ; SHAW, Nick J ; ROBERT, Jean-Jacques ; ROOMAN, Raoul ; DIATLOFF-ZITO, Catherine
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883
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The Prevalence of Metabolic Syndrome and Cardiovascular Risk Factors in a Group of Obese Saudi Children and Adolescents: A Hospital-Based Study
Author / Creator:Taha, Doris ; Ahmed, Omaima ; Sadiq, Bakr bin
Journal title:Annals of Saudi medicine, 2009-09, Vol.29 (5), p.357-360
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The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: A hospital-based study
Author / Creator:Taha, Doris ; Ahmed, Omaima ; Sadiq, Bakr bin
Publisher:Saudi Arabia: Medknow Publications and Media Pvt. Ltd
Journal title:Annals of Saudi medicine, 2009-09, Vol.29 (5), p.357-360
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The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: A hospital-based study The prevalence of metabolic syndrome and cardiovascular...
Author / Creator:Taha Doris ; Ahmed Omaima ; Sadiq Bakr
Publisher:King Faisal Specialist Hospital and Research Centre
Journal title:Annals of Saudi medicine, 2009-01, Vol.29 (5), p.357-360
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Schimke immunoosseous dysplasia: suggestions of genetic diversity
Author / Creator:Clewing, J. Marietta ; Fryssira, Helen ; Goodman, David ; Smithson, Sarah F. ; Sloan, Emily A. ; Lou, Shu ; Huang, Yan ; Choi, Kunho ; Lücke, Thomas ; Alpay, Harika ; André, Jean-Luc ; Asakura, Yumi ; Biebuyck-Gouge, Nathalie ; Bogdanovic, Radovan ; Bonneau, Dominique ; Cancrini, Caterina ; Cochat, Pierre ; Cockfield, Sandra ; Collard, Laure ; Cordeiro, Isabel ; Cormier-Daire, Valerie ; Cransberg, Karlien ; Cutka, Karel ; Deschenes, Georges ; Ehrich, Jochen H.H. ; Fründ, Stefan ; Georgaki, Helen ; Guillen-Navarro, Encarna ; Hinkelmann, Barbara ; Kanariou, Maria ; Kasap, Belde ; Kilic, Sara Sebnem ; Lama, Guiliana ; Lamfers, Petra ; Loirat, Chantal ; Majore, Silvia ; Milford, David ; Morin, Denis ; Özdemir, Nihal ; Pontz, Bertram F. ; Proesmans, Willem ; Psoni, Stavroula ; Reichenbach, Herbert ; Reif, Silke ; Rusu, Cristina ; Saraiva, Jorge M. ; Sakallioglu, Onur ; Schmidt, Beate ; Shoemaker, Lawrence ; Sigaudy, Sabine ; Smith, Graham ; Sotsiou, Flora ; Stajic, Natasa ; Stein, Anja ; Stray-Pedersen, Asbjørg ; Taha, Doris ; Taque, Sophie ; Tizard, Jane ; Tsimaratos, Michel ; Wong, Newton A.C.S. ; Boerkoel, Cornelius F.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-03, Vol.28 (3), p.273-283
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Schimke immunoosseous dysplasia: defining skeletal features
Author / Creator:Hunter, Kshamta B. ; Lücke, Thomas ; Spranger, Jürgen ; Smithson, Sarah F. ; Alpay, Harika ; André, Jean-Luc ; Asakura, Yumi ; Bogdanovic, Radovan ; Bonneau, Dominique ; Cairns, Robyn ; Cransberg, Karlien ; Fründ, Stefan ; Fryssira, Helen ; Goodman, David ; Helmke, Knut ; Hinkelmann, Barbara ; Lama, Guiliana ; Lamfers, Petra ; Loirat, Chantal ; Majore, Silvia ; Mayfield, Christy ; Pontz, Bertram F. ; Rusu, Cristina ; Saraiva, Jorge M. ; Schmidt, Beate ; Shoemaker, Lawrence ; Sigaudy, Sabine ; Stajic, Natasa ; Taha, Doris ; Boerkoel, Cornelius F.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-07, Vol.169 (7), p.801-811
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Absent or Delayed Adrenarche in Pit-1/POU1F1 Deficiency
Author / Creator:Taha, Doris ; Mullis, Primus-E. ; Ibáñez, Lourdes ; de Zegher, Francis
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2005-01, Vol.64 (4), p.175-179
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Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis
Author / Creator:El-Naggar, Walid ; Balfe, J. Williamson ; Barbar, Maha ; Taha, Doris
Publisher:Germany: Springer
Journal title:Pediatric nephrology (Berlin, West), 2005-09, Vol.20 (9), p.1336-1339
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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1
Author / Creator:Thakur, Mili ; Taha, Doris ; Misra, Vinod K
Journal title:Journal of the Endocrine Society, 2017, Vol.1 (4), p.278-282
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Showing 1 to 20 of 20 results

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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

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THU230 Consumptive Hypothyroidism Secondary To Hemangioma

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SAT081 Maturity Onset Diabetes Of The Young (MODY) Due To A New BLK Gene Mutation

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SAT-275 “Nutritional Rickets: Still A Problem In The 21StCentury”

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Wolcott-Rallison Syndrome

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Growth Hormone Replacement Therapy in Children with Leukemia in Remission

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Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

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SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)

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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

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SAT-298 A Case of a Forgotten Histrelin Acetate Implant: Can Histrelin Acetate Implants Be Used for More Than a Year?

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MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G)

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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

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The Prevalence of Metabolic Syndrome and Cardiovascular Risk Factors in a Group of Obese Saudi Children and Adolescents: A Hospital-Based Study

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The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: A hospital-based study

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The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: A hospital-based study The prevalence of metabolic syndrome and cardiovascular...

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Schimke immunoosseous dysplasia: suggestions of genetic diversity

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Schimke immunoosseous dysplasia: defining skeletal features

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Absent or Delayed Adrenarche in Pit-1/POU1F1 Deficiency

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Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis

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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

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