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Journal Abstract Search

88 related items for PubMed ID: 2031615

  • 1. Nesidioblastosis: evidence for autosomal recessive inheritance.
    Woolf DA, Leonard JV, Trembath RC, Pembrey ME, Grant DB.
    Arch Dis Child; 1991 Apr; 66(4):529-30. PubMed ID: 2031615
    [Abstract] [Full Text] [Related]

  • 2. Familial nesidioblastosis: more evidence for autosomal recessive inheritance.
    Cherian MP, Haddad MJ, Sa'di AR, Mathew PM.
    Ann Trop Paediatr; 1994 Apr; 14(4):287-91. PubMed ID: 7880090
    [Abstract] [Full Text] [Related]

  • 3. Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.
    Moreno LA, Turck D, Gottrand F, Fabre M, Manouvrier-Hanu S, Farriaux JP.
    Am J Med Genet; 1989 Dec; 34(4):584-6. PubMed ID: 2624273
    [Abstract] [Full Text] [Related]

  • 4. Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees.
    Glaser B, Phillip M, Carmi R, Lieberman E, Landau H.
    Am J Med Genet; 1990 Dec; 37(4):511-5. PubMed ID: 2260597
    [Abstract] [Full Text] [Related]

  • 5. A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism.
    Bianchi C, Corbella E, Beccaria L, Bolla P, Chiumello G.
    Acta Paediatr; 1992 Oct; 81(10):853-5. PubMed ID: 1421899
    [Abstract] [Full Text] [Related]

  • 6. Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
    Komlosi K, Diederich S, Fend-Guella DL, Bartsch O, Winter J, Zechner U, Beck M, Meyer P, Schweiger S.
    Orphanet J Rare Dis; 2018 Jan 26; 13(1):23. PubMed ID: 29373990
    [Abstract] [Full Text] [Related]

  • 7. Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.
    Koppel R, Friedman S, Fallet S.
    Am J Med Genet; 1996 Aug 23; 64(3):485-7. PubMed ID: 8862626
    [Abstract] [Full Text] [Related]

  • 8. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
    Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE.
    Hum Mutat; 2014 Oct 23; 35(10):1203-10. PubMed ID: 25044680
    [Abstract] [Full Text] [Related]

  • 9. Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families.
    Bali B, Kull LL, Strug LJ, Clarke T, Murphy PL, Akman CI, Greenberg DA, Pal DK.
    Epilepsia; 2007 Dec 23; 48(12):2266-72. PubMed ID: 17662063
    [Abstract] [Full Text] [Related]

  • 10. Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.
    Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A.
    J Biosoc Sci; 2009 Sep 23; 41(5):575-81. PubMed ID: 19433002
    [Abstract] [Full Text] [Related]

  • 11. Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.
    Frydman M, Greiber C, Cohen HA.
    Am J Med Genet; 1985 May 23; 21(1):51-60. PubMed ID: 4003448
    [Abstract] [Full Text] [Related]

  • 12. Malformations among 289,365 Births Attributed to Mutations with Autosomal Dominant and Recessive and X-Linked Inheritance.
    Toufaily MH, Westgate MN, Nasri H, Holmes LB.
    Birth Defects Res; 2018 Jan 23; 110(2):92-97. PubMed ID: 29377642
    [Abstract] [Full Text] [Related]

  • 13. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
    Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S.
    BMC Med Genet; 2018 Sep 10; 19(1):160. PubMed ID: 30200890
    [Abstract] [Full Text] [Related]

  • 14. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.
    Bonioli E, Palmieri A, Bertola A, Bellini C.
    Genet Couns; 1995 Sep 10; 6(4):309-12. PubMed ID: 8775417
    [Abstract] [Full Text] [Related]

  • 15. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
    Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.
    Acta Neuropsychiatr; 2015 Feb 10; 27(1):38-47. PubMed ID: 25434728
    [Abstract] [Full Text] [Related]

  • 16. Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
    Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2207-2217. PubMed ID: 28418495
    [Abstract] [Full Text] [Related]

  • 17. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul 01; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 18. Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism.
    Ritvo ER, Spence MA, Freeman BJ, Mason-Brothers A, Mo A, Marazita ML.
    Am J Psychiatry; 1985 Feb 01; 142(2):187-92. PubMed ID: 4038589
    [Abstract] [Full Text] [Related]

  • 19. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
    Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.
    Clin Genet; 2011 Mar 01; 79(3):273-81. PubMed ID: 20528890
    [Abstract] [Full Text] [Related]

  • 20. Reconciling genotype with phenotype: Lessons learned on the Arabian Peninsula.
    Khan AO.
    Ophthalmic Genet; 2017 Mar 01; 38(1):2-6. PubMed ID: 28085531
    [Abstract] [Full Text] [Related]

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