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354 related items for PubMed ID: 19554981

  • 1. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
    Naguib KK, Gouda SA, Elshafey A, Mohammed F, Bastaki L, Azab AS, Alawadi SA.
    East Mediterr Health J; 2009; 15(2):345-52. PubMed ID: 19554981
    [Abstract] [Full Text] [Related]

  • 2. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
    Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD, HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium.
    Nat Genet; 2002 Nov; 32(3):448-52. PubMed ID: 12389028
    [Abstract] [Full Text] [Related]

  • 3. Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
    Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E.
    Pediatr Neurol; 2004 Mar; 30(3):195-200. PubMed ID: 15033202
    [Abstract] [Full Text] [Related]

  • 4. Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome.
    Hellani A, Aqueel A, Jaroudi K, Ozand P, Coskun S.
    Prenat Diagn; 2004 Apr; 24(4):302-6. PubMed ID: 15065107
    [Abstract] [Full Text] [Related]

  • 5. Sanjad-Sakati syndrome in a Tunisian child.
    Kerkeni E, Sakka R, Sfar S, Bouaziz S, Ghedira N, Ben Ameur K, Ben Hmida H, Chioukh FZ, Ghédira ES, Gribaa M, Monastiri K.
    Arch Pediatr; 2015 Sep; 22(9):951-5. PubMed ID: 26231322
    [Abstract] [Full Text] [Related]

  • 6. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E.
    Am J Med Genet; 1992 Jan 01; 42(1):112-6. PubMed ID: 1308349
    [Abstract] [Full Text] [Related]

  • 7. The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
    Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiania A.
    Ann Saudi Med; 2015 Jan 01; 35(2):170-2. PubMed ID: 26336027
    [Abstract] [Full Text] [Related]

  • 8. Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome.
    Teebi AS.
    J Med Genet; 2000 Feb 01; 37(2):145. PubMed ID: 10712106
    [No Abstract] [Full Text] [Related]

  • 9. Sanjad Sakati syndrome: a case series from Jordan.
    Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, El-Khateeb M, Hamamy H.
    East Mediterr Health J; 2012 May 01; 18(5):527-31. PubMed ID: 22764442
    [Abstract] [Full Text] [Related]

  • 10. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
    Cavole TR, Perrone E, de Faria Soares MF, Dias da Silva MR, Maeda SS, Lazaretti-Castro M, Alvarez Perez AB.
    Am J Med Genet A; 2020 Dec 01; 182(12):3029-3034. PubMed ID: 33010201
    [Abstract] [Full Text] [Related]

  • 11. Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
    Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D.
    Arch Pediatr; 2019 Feb 01; 26(2):102-107. PubMed ID: 30638765
    [Abstract] [Full Text] [Related]

  • 12. Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.
    Aminzadeh M, Galehdari H, Shariati G, Malekpour N, Ghandil P.
    J Pediatr (Rio J); 2020 Feb 01; 96(1):60-65. PubMed ID: 30080992
    [Abstract] [Full Text] [Related]

  • 13. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
    Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM.
    Clin Genet; 2008 Nov 01; 74(5):455-62. PubMed ID: 18651844
    [Abstract] [Full Text] [Related]

  • 14. The Neu-Laxova syndrome: comments on syndrome identification.
    Fitch N, Resch L, Rochon L.
    Am J Med Genet; 1982 Dec 01; 13(4):445-52. PubMed ID: 6891564
    [No Abstract] [Full Text] [Related]

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  • 16. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.
    Verloes A, Dodinval P, Beco L, Bonnivert J, Lambotte C.
    Am J Med Genet; 1990 Sep 01; 37(1):119-23. PubMed ID: 2240028
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  • 20. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.
    Marsden D, Nyhan WL, Sakati NO.
    Am J Med Genet; 1994 Sep 01; 52(3):334-8. PubMed ID: 7810565
    [Abstract] [Full Text] [Related]

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