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    Results: 1 to 20 of 428

    1.

    Myhre syndrome: new reports, review, and differential diagnosis.

    Burglen L, Héron D, Moerman A, Dieux-Coeslier A, Bourguignon JP, Bachy A, Carel JC, Cormier-Daire V, Manouvrier S, Verloes A.

    J Med Genet. 2003 Jul;40(7):546-51. Review. No abstract available. PMID: 12843331 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.

    Boneh A, Glick B, Gutman A, Mogle P.

    Clin Genet. 1996 Nov;50(5):403-6.PMID: 9007332 [PubMed - indexed for MEDLINE]Related articles

    3.

    Case of Myhre syndrome with autism and peculiar skin histological findings.

    Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G.

    Am J Med Genet. 2001 Oct 1;103(2):163-5.PMID: 11568925 [PubMed - indexed for MEDLINE]Related articles

    4.

    Studies on the pathogenesis of Costello syndrome.

    Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ.

    J Med Genet. 2003 Apr;40(4):e37. No abstract available. PMID: 12676910 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

    Lacombe D, Bonneau D, Verloes A, Couet D, Koulischer L, Battin J.

    Genet Couns. 1993;4(3):193-8.PMID: 8267926 [PubMed - indexed for MEDLINE]Related articles

    6.

    Myhre's syndrome in a girl with normal intelligence.

    Rulli I, Ferrero GB, Belligni E, Delmonaco AG, Defilippi C, Silengo M.

    Am J Med Genet A. 2005 Apr 1;134A(1):100-2. No abstract available. PMID: 15723310 [PubMed - indexed for MEDLINE]Related articles

    7.

    Novel findings in a patient with Weaver or a Weaver-like syndrome.

    Scarano G, Della Monica M, Lonardo F, Neri G.

    Am J Med Genet. 1996 May 17;63(2):378-81.PMID: 8725789 [PubMed - indexed for MEDLINE]Related articles

    8.

    Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome.

    García-Ortiz JE, Banda-Espinoza F, Zenteno JC, Galván-Uriarte LM, Ruiz-Flores P, García-Cruz D.

    Am J Med Genet A. 2005 May 15;135(1):21-7.PMID: 15809993 [PubMed - indexed for MEDLINE]Related articles

    9.

    Keipert syndrome: two further cases and review of the literature.

    Nik-Zainal S, Holder SE, Cruwys M, Hall CM, Shaw-Smith C.

    Clin Dysmorphol. 2008 Jul;17(3):169-75. Review. No abstract available. PMID: 18541962 [PubMed - indexed for MEDLINE]Related articles

    10.

    Long-term follow-up of three individuals with Kabuki syndrome.

    Shalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald McGinn DM.

    Am J Med Genet A. 2004 Mar 1;125A(2):191-200.PMID: 14981723 [PubMed - indexed for MEDLINE]Related articles

    11.

    A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: another case of the Gurrieri syndrome.

    Nakane T, Tandou T, Mitsui Y, Hayashibe H, Aihara M, Nakazawa S.

    Am J Med Genet A. 2003 May 1;118A(4):398-401. No abstract available. PMID: 12687677 [PubMed - indexed for MEDLINE]Related articles

    12.

    Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome.

    Feingold M.

    Am J Med Genet A. 2006 Apr 1;140(7):782-4.PMID: 16523514 [PubMed - indexed for MEDLINE]Related articles

    13.

    New syndrome of mental retardation, Robin sequence, and brachydactyly.

    Gurrieri F, Steindl K, Giglio S, Neri G.

    Am J Med Genet. 2001 Apr 15;100(1):49-51.PMID: 11337748 [PubMed - indexed for MEDLINE]Related articles

    14.

    Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

    Gurrieri F, Scarano G, Garavelli L, Della Monica M, Lonardo F, Cuda D, Banchini G, Opitz JM, Neri G.

    Am J Med Genet A. 2004 Apr 15;126A(2):204-7.PMID: 15057987 [PubMed - indexed for MEDLINE]Related articles

    15.

    Marden-Walker syndrome in an adult.

    Kotzot D, Schinzel A.

    Clin Dysmorphol. 1995 Jul;4(3):260-5.PMID: 7551165 [PubMed - indexed for MEDLINE]Related articles

    16.

    Clark-Baraitser syndrome: report of a new case and review of the literature.

    Mendicino A, Sabbadini G, Pergola MS.

    Clin Dysmorphol. 2005 Jul;14(3):133-5. Review.PMID: 15930902 [PubMed - indexed for MEDLINE]Related articles

    17.

    Bindewald syndrome: Tetralogy of Fallot, large ears, severe growth and mental retardation.

    Belengeanu V, Rozsnyai K, Farcaş S, Lacatuşu A.

    Am J Med Genet A. 2005 Feb 1;132(4):445-6. No abstract available. PMID: 15578610 [PubMed - indexed for MEDLINE]Related articles

    18.

    Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

    Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S.

    Am J Med Genet. 2002 Jul 15;110(4):384-90.PMID: 12116214 [PubMed - indexed for MEDLINE]Related articles

    19.

    Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

    Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K.

    J Med Genet. 2003 Apr;40(4):285-9. No abstract available. PMID: 12676901 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

    Orrico A, Hayek G.

    Clin Genet. 1997 Sep;52(3):177-9.PMID: 9377808 [PubMed - indexed for MEDLINE]Related articles

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