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Journal Abstract Search

381 related items for PubMed ID: 10190477

  • 21. Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings.
    Can B.
    Clin Genet; 1997 Oct; 52(4):250. PubMed ID: 9383034
    [No Abstract] [Full Text] [Related]

  • 22. Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).
    Chen YH, Sun MH, Hsia SH, Lai CC, Wu WC.
    BMC Ophthalmol; 2014 Nov 24; 14():143. PubMed ID: 25421742
    [Abstract] [Full Text] [Related]

  • 23. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
    Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S.
    Am J Med Genet A; 2015 Dec 24; 167A(12):3148-52. PubMed ID: 26333564
    [Abstract] [Full Text] [Related]

  • 24. Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia.
    Balci S, Say B, Firat T.
    Clin Genet; 1974 Jan 24; 5(1):36-9. PubMed ID: 4839026
    [No Abstract] [Full Text] [Related]

  • 25. Mowat-Wilson syndrome detected by using high resolution microarray.
    Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ.
    Gene; 2013 Dec 15; 532(2):307-9. PubMed ID: 24029077
    [Abstract] [Full Text] [Related]

  • 26. Provisionally unique autosomal recessive syndrome due to significant consanguinity.
    Avegno J, Tilton AH, Lacassie Y.
    Am J Med Genet; 2001 Sep 01; 102(4):324-6. PubMed ID: 11503158
    [Abstract] [Full Text] [Related]

  • 27. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
    Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C.
    Clin Genet; 2018 Jul 01; 94(1):182-184. PubMed ID: 29498412
    [No Abstract] [Full Text] [Related]

  • 28. A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism.
    Zlotogora J, Dagan J, Ganen A, Abu-Libdeh M, Ben-Neriah Z, Cohen T.
    J Med Genet; 1997 Oct 01; 34(10):813-6. PubMed ID: 9350812
    [Abstract] [Full Text] [Related]

  • 29. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
    Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L.
    Metab Brain Dis; 2015 Jun 01; 30(3):687-94. PubMed ID: 25227173
    [Abstract] [Full Text] [Related]

  • 30. Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
    Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA.
    Am J Med Genet A; 2016 May 01; 170A(5):1302-7. PubMed ID: 26842768
    [Abstract] [Full Text] [Related]

  • 31. Filippi syndrome: a new case with skeletal abnormalities.
    Héron D, Billette de Villemeur T, Munnich A, Lyonnet S.
    J Med Genet; 1995 Aug 01; 32(8):659-61. PubMed ID: 7473664
    [Abstract] [Full Text] [Related]

  • 32. Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?
    Richardson E, Davison C, Moore AT.
    Ophthalmic Genet; 1996 Jun 01; 17(2):59-65. PubMed ID: 8832722
    [Abstract] [Full Text] [Related]

  • 33. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
    Ariss M, Natan K, Friedman N, Traboulsi EI.
    Ophthalmic Genet; 2012 Sep 01; 33(3):159-60. PubMed ID: 22486326
    [Abstract] [Full Text] [Related]

  • 34. Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.
    Garty BZ, Eisenstein B, Sandbank J, Kaffe S, Dagan R, Gadoth N.
    J Med Genet; 1994 Feb 01; 31(2):121-5. PubMed ID: 8182716
    [Abstract] [Full Text] [Related]

  • 35. Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.
    Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ.
    Am J Med Genet; 2001 Jun 15; 101(2):114-9. PubMed ID: 11391653
    [Abstract] [Full Text] [Related]

  • 36. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
    Kotzot D, Richter K, Gierth-Fiebig K.
    Am J Med Genet; 1994 Apr 15; 50(3):224-7. PubMed ID: 8042664
    [Abstract] [Full Text] [Related]

  • 37. Ocular abnormalities of true microcephaly.
    Alzial C, Dufier JL, Aicardi J, de Grouchy J, Saraux H.
    Ophthalmologica; 1980 Apr 15; 180(6):333-9. PubMed ID: 6777726
    [Abstract] [Full Text] [Related]

  • 38. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
    Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H.
    Eur J Med Genet; 2015 Sep 15; 58(9):479-87. PubMed ID: 26188272
    [Abstract] [Full Text] [Related]

  • 39. Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome.
    Mégarbané A, Ruchoux MM, Loeys B, Ayoub N, Nuytinck L.
    Am J Med Genet; 2001 Dec 01; 104(3):221-4. PubMed ID: 11754048
    [Abstract] [Full Text] [Related]

  • 40. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
    Baraitser M, Winter RM.
    J Med Genet; 1988 Jan 01; 25(1):41-3. PubMed ID: 3351890
    [Abstract] [Full Text] [Related]

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