BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 12868467)

  • 1. Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.
    Temtamy SA; Ismail S; Nemat A
    Clin Dysmorphol; 2003 Apr; 12(2):77-83. PubMed ID: 12868467
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
    Hettiaracchchi D; Bonnard C; Jayawardana SMA; Ng AYJ; Tohari S; Venkatesh B; Reversade B; Singaraja R; Dissanayake VHW
    BMC Med Genet; 2018 Jul; 19(1):125. PubMed ID: 30041615
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.
    Elliott AM; Reed MH; Evans JA; Cross HG; Chudley AE
    Clin Dysmorphol; 2004 Jul; 13(3):143-150. PubMed ID: 15194949
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
    Malik S; Arshad M; Amin-Ud-Din M; Oeffner F; Dempfle A; Haque S; Koch MC; Ahmad W; Grzeschik KH
    Am J Med Genet A; 2004 Apr; 126A(1):61-7. PubMed ID: 15039974
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Present nosology of the Cenani-Lenz type of syndactyly.
    Pfeiffer RA; Meisel-Stosiek M
    Clin Genet; 1982 Jan; 21(1):74-9. PubMed ID: 6279340
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
    Richieri-Costa A; Colletto GM; Gollop TR; Masiero D
    Am J Med Genet; 1985 Apr; 20(4):631-8. PubMed ID: 2986457
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.
    Dodinval P
    Hum Genet; 1979 Apr; 48(2):183-9. PubMed ID: 222668
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
    Khan TN; Klar J; Ali Z; Khan F; Baig SM; Dahl N
    Eur J Med Genet; 2013 Jul; 56(7):371-4. PubMed ID: 23664847
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cenani-Lenz syndrome in father and daughter.
    De Smet L; De Beer P; Fryns JP
    Genet Couns; 1996; 7(2):153-7. PubMed ID: 8831136
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.
    Wechsler SB; Lehoczky JA; Hall JG; Innis JW
    Clin Dysmorphol; 2004 Apr; 13(2):63-69. PubMed ID: 15057119
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?
    Percin EF; Percin S; Egilmez H; Sezgin I; Ozbas F; Akarsu AN
    J Med Genet; 1998 Oct; 35(10):868-74. PubMed ID: 9783716
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cenani-Lenz type of syndactyly: a complex type of syndactyly with multiple synostoses.
    De Smet L; Winnepenninckx B; Fryns JP; Fabry G
    Genet Couns; 1992; 3(3):145-7. PubMed ID: 1326998
    [No Abstract]   [Full Text] [Related]  

  • 13. Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
    Afzal M; Zaman Q; Kornak U; Mundlos S; Malik S; Flöttmann R
    Eur J Med Genet; 2017 Aug; 60(8):421-425. PubMed ID: 28559208
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
    Frasson M; Calixto N; Cronemberger S; de Aguiar RA; Leão LL; de Aguiar MJ
    Ophthalmic Genet; 2004 Sep; 25(3):227-36. PubMed ID: 15512999
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Oto-palato-digital syndrome in an Iranian infant.
    Farhud DD; Walizadeh GR; Farhud I
    Monatsschr Kinderheilkd; 1989 Oct; 137(10):681-3. PubMed ID: 2555708
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.
    Schinzel A
    J Med Genet; 1988 May; 25(5):332-6. PubMed ID: 3385741
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
    Laing RB; Dean JC; Pearson DW; Johnston AW
    J Med Genet; 1991 Aug; 28(8):544-6. PubMed ID: 1920373
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
    Sobreira NL; Cernach MC; Brunoni D; Perez AB
    Am J Med Genet A; 2008 Jul; 146A(13):1725-8. PubMed ID: 18512233
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.
    Dimitrov BI; Voet T; De Smet L; Vermeesch JR; Devriendt K; Fryns JP; Debeer P
    J Med Genet; 2010 Aug; 47(8):569-74. PubMed ID: 20610440
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.
    Seaver LH; Cassidy SB
    Am J Med Genet; 1991 Dec; 41(4):405-9. PubMed ID: 1776627
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.