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Journal Abstract Search

156 related items for PubMed ID: 3901750

  • 21. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
    Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH.
    Am J Med Genet; 1994 Jul 15; 51(4):591-7. PubMed ID: 7943045
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  • 23. Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:).
    Young RS, Palmer CG, Bender HA, Weaver DD, Hodes ME.
    Am J Med Genet; 1982 May 15; 12(1):103-7. PubMed ID: 7091193
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  • 26. Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1.
    Jensen PK, Junien C, Despoisse S, Bernsen A, Thelle T, Friedrich U, de la Chapelle A.
    Ann Genet; 1982 May 15; 25(4):207-11. PubMed ID: 6985008
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  • 27. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
    Chitayat D, Ruvalcaba RH, Babul R, Teshima IE, Posnick JC, Vekemans MJ, Scarpelli H, Thuline H.
    Am J Med Genet; 1995 Jan 16; 55(2):147-54. PubMed ID: 7717413
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  • 28. De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.
    Kozma C, Meck JM, Loomis KJ, Galindo HC.
    Am J Med Genet; 1991 Dec 15; 41(4):446-50. PubMed ID: 1776635
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  • 32. The 4P-syndrome. Case description and literature review.
    Moretti P, Ferrari M, Di Battista S, Di Battista C.
    Minerva Pediatr; 2001 Feb 15; 53(1):23-8. PubMed ID: 11309539
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  • 33. Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
    Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL.
    Am J Med Genet; 1995 May 22; 57(1):52-6. PubMed ID: 7645598
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  • 34. De novo ring chromosome 6 in a child with multiple congenital anomalies.
    Ahzad HA, Ramli SF, Loong TM, Salahshourifar I, Zilfalil BA, Yusoff NM.
    Kobe J Med Sci; 2010 Sep 28; 56(2):E79-84. PubMed ID: 21063149
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  • 35. A new X-linked multiple congenital anomalies/mental retardation syndrome.
    Golabi M, Ito M, Hall BD.
    Am J Med Genet; 1984 Jan 28; 17(1):367-74. PubMed ID: 6711604
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  • 36. Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor.
    Suwa K, Momoi MY, Yamagata T, Mori Y.
    Am J Med Genet; 1998 Jul 07; 78(3):291-3. PubMed ID: 9677069
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  • 37. The 9p- syndrome.
    Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A.
    Ann Genet; 1976 Mar 07; 19(1):11-6. PubMed ID: 1084115
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  • 38. Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].
    Schwartz S, Meekins J, Panny SR, Sun CC, Cohen MM.
    Am J Med Genet; 1983 May 07; 15(1):141-4. PubMed ID: 6859113
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  • 39. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
    Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E.
    Clin Genet; 2009 Mar 07; 75(3):259-64. PubMed ID: 19170718
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  • 40. Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].
    Al-Awadi SA, Farag TI, Usha R, el-Khalifa MY, Sundareshan TS, Al-Othman SA.
    Am J Med Genet; 1986 Apr 07; 23(4):931-3. PubMed ID: 3963055
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