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Journal Abstract Search

140 related items for PubMed ID: 10861712

  • 1. Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome.
    Hershkovitz E, Hershkovitz R, Hertzug L, Gorodischer R, Mazor M, Parvari R.
    Prenat Diagn; 2000 Jun; 20(6):475-7. PubMed ID: 10861712
    [Abstract] [Full Text] [Related]

  • 2. A newborn diagnosed with van Maldergem syndrome.
    Ulubas Isik D, Unal S, Erol S, Arslan Z, Bas AY, Demirel N.
    Clin Dysmorphol; 2018 Apr; 27(2):63-65. PubMed ID: 29505454
    [No Abstract] [Full Text] [Related]

  • 3. A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
    Ryabets-Lienhard A, Issaranggoon Na Ayuthaya S, Graham JM, Pitukcheewanont P.
    Am J Med Genet A; 2018 Aug; 176(8):1768-1772. PubMed ID: 30055029
    [Abstract] [Full Text] [Related]

  • 4. Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.
    Khan AO, Al-Assiri A, Al-Mesfer S.
    J AAPOS; 2007 Jun; 11(3):288-90. PubMed ID: 17257873
    [Abstract] [Full Text] [Related]

  • 5. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
    Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R.
    Eur J Hum Genet; 2012 Oct; 20(10):1024-31. PubMed ID: 22473091
    [Abstract] [Full Text] [Related]

  • 6. Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
    Hershkovitz E, Parvari R, Diaz GA, Gorodischer R.
    J Pediatr Endocrinol Metab; 2004 Dec; 17(12):1583-90. PubMed ID: 15645691
    [Abstract] [Full Text] [Related]

  • 7. Middle ear abnormalities in Van Maldergem syndrome.
    Verheij E, Thomeer HG, Pameijer FA, Topsakal V.
    Am J Med Genet A; 2017 Jan; 173(1):239-244. PubMed ID: 27739185
    [Abstract] [Full Text] [Related]

  • 8. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
    [Abstract] [Full Text] [Related]

  • 9. The very rare aglossia adactylia syndrome with a novel finding of mental retardation.
    Seven M, Yosunkaya E, Guven G, Yuksel A.
    Genet Couns; 2012 Jun; 23(1):81-5. PubMed ID: 22611647
    [No Abstract] [Full Text] [Related]

  • 10. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
    Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC.
    Am J Med Genet A; 2018 May; 176(5):1166-1174. PubMed ID: 29681106
    [Abstract] [Full Text] [Related]

  • 11. Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome.
    David O, Barash G, Agur R, Loewenthal N, Carmon L, Shaki D, Walker D, Novoa R, Haim A, Hershkovitz E.
    J Clin Endocrinol Metab; 2021 Jan 23; 106(2):e907-e916. PubMed ID: 33150438
    [Abstract] [Full Text] [Related]

  • 12. The windblown hand - diagnosis, clinical picture and pathogenesis.
    Grünert J, Jakubietz M, Polykandriotis E, Langer M.
    Handchir Mikrochir Plast Chir; 2004 Jan 23; 36(2-3):117-25. PubMed ID: 15162309
    [Abstract] [Full Text] [Related]

  • 13. A syndrome with true anophthalmia, hand-foot defects and mental retardation.
    Pallotta R, Dallapiccola B.
    Ophthalmic Paediatr Genet; 1984 Apr 23; 4(1):19-23. PubMed ID: 6544388
    [Abstract] [Full Text] [Related]

  • 14. Newly recognized ectrodactyly/deafness syndrome.
    Raas-Rothschild A, Aviram A, Ben-Ami T, Berger I, Katznelson MB, Goodman RM.
    J Craniofac Genet Dev Biol; 1989 Apr 23; 9(2):121-7. PubMed ID: 2794002
    [Abstract] [Full Text] [Related]

  • 15. Status epilepticus in a child with Sanjad Sakati syndrome.
    Prasad R, Kumari C, Mishra OP, Singh UK.
    BMJ Case Rep; 2013 Feb 01; 2013():. PubMed ID: 23378547
    [Abstract] [Full Text] [Related]

  • 16. Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions.
    Hershkovitz E, Rozin I, Limony Y, Golan H, Hadad N, Gorodischer R, Levy R.
    Pediatr Res; 2007 Oct 01; 62(4):505-9. PubMed ID: 17667846
    [Abstract] [Full Text] [Related]

  • 17. Hypoparathyroidism[corrected]-retardation-dysmorphism (HRD): is there a new variant not caused by a TBCE mutation?
    Naguib K, Elshafey A, Gouda S, Mohammad F.
    Am J Med Genet A; 2007 Feb 01; 143A(3):301-2; author reply 303-4. PubMed ID: 17219390
    [No Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
    Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH.
    Childs Nerv Syst; 2013 Apr 01; 29(4):525-9. PubMed ID: 23400866
    [Abstract] [Full Text] [Related]

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