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Journal Abstract Search

112 related items for PubMed ID: 3402627

  • 41. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
    Demirci FY, Rigatti BW, Mah TS, Gorin MB.
    Am J Ophthalmol; 2006 Jan; 141(1):208-10. PubMed ID: 16387007
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  • 45. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
    Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W.
    Br J Dermatol; 2009 May; 160(5):1006-10. PubMed ID: 19292720
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  • 46. Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy.
    Boltshauser E, Steinlin M, Boesch C, Martin E, Schubiger G.
    Neuropediatrics; 1991 Feb; 22(1):33-5. PubMed ID: 2038425
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  • 49. Ciliary and superciliary hypotrichosis. A distinct autosomal dominant trait.
    García-Esquivel L, Hernández A, Reynoso MC, Fragoso R, Villar-Calvo VM, Soto F, Cantú JM.
    Ophthalmic Paediatr Genet; 1986 Aug; 7(2):77-9. PubMed ID: 3785882
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  • 50. Intracranial calcification, retinopathy, and osteopenia: a new syndrome?
    Sazgar M, Leonard NJ, Renaud DL, Bhargava R, Sinclair DB.
    Pediatr Neurol; 2002 Apr; 26(4):324-8. PubMed ID: 11992766
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  • 52. The Aircardi-Goutières syndrome: variable clinical expression in two siblings.
    Verrips A, Hiel JA, Gabreëls FJ, Wesseling P, Rotteveel JJ.
    Pediatr Neurol; 1997 May; 16(4):323-5. PubMed ID: 9258967
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  • 53. Atrichias and hypotrichoses: a brief review with description of a recessive atrichia in two brothers.
    Pinheiro M, Freire-Maia N.
    Hum Hered; 1985 May; 35(1):53-5. PubMed ID: 3972425
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  • 54. Fuzzy, a hypotrichotic mutant in linkage group I of the Norway rat.
    Palm J, Ferguson FG.
    J Hered; 1976 May; 67(5):284-8. PubMed ID: 1010929
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  • 55. A case of onycotricodysplasia with intellectual disability, without neutropenia.
    Ikbal M, Eker HK, Tos T, Alp MY, Cebi AH.
    Genet Couns; 2012 May; 23(3):389-92. PubMed ID: 23072187
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  • 56. A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
    Forouhideh Y, Müller K, Ruf W, Assi M, Seker T, Tunca C, Knehr A, Strom TM, Gorges M, Schradt F, Meitinger T, Ludolph AC, Pinkhardt EH, Basak AN, Kassubek J, Uttner I, Weishaupt JH.
    Brain; 2019 Feb 01; 142(2):e4. PubMed ID: 30649222
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  • 58. Twenty-nail dystrophy of childhood--two cases in one family.
    Menni S, Piccinno R, Sala F, Crosti C, Dalpozzo V.
    Clin Exp Dermatol; 1984 Nov 01; 9(6):604-7. PubMed ID: 6499277
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  • 59. A patient with onychotrichodysplasia, neutropenia and normal intelligence.
    Verhage J, Habbema L, Vrensen GF, Roord JJ, Bleeker-Wagemakers EM.
    Clin Genet; 1987 Jun 01; 31(6):374-80. PubMed ID: 3621639
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  • 60. Rare associations with Goldenhar syndrome.
    Vatwani V, Verma N, Palta SC, Dogra BB.
    Indian Pediatr; 1994 Jan 01; 31(1):72-3. PubMed ID: 7883328
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