BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 12081722)

  • 1. Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.
    Sharony R; Kidron D; Amiel A; Fejgin M; Borochowitz ZU
    Clin Genet; 2002 May; 61(5):369-74. PubMed ID: 12081722
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cloverleaf skull associated with unusual skeletal anomalies.
    Say B; Poznanski AK
    Pediatr Radiol; 1987; 17(2):93-6. PubMed ID: 3562118
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: a distinctive malformation syndrome.
    Froster UG; Kolditz P; Wisser J; Robbiani MB; Stallmach T; Hebisch G; Huch R; Huch A
    Am J Med Genet; 1996 Mar; 62(1):48-53. PubMed ID: 8779324
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Cloverleaf skull associated with generalized bone defects close to asphyxiating thoracic dysplasia].
    Benallègue A; Lacete F; Maroteaux P
    Ann Genet; 1987; 30(2):113-7. PubMed ID: 3499843
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
    Chen H; Immken L; Lachman R; Yang S; Rimoin DL; Rightmire D; Eteson D; Stewart F; Beemer FA; Opitz JM
    Am J Med Genet; 1984 Apr; 17(4):809-26. PubMed ID: 6720746
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
    da-Silva EO; Duarte AR; Lins TS
    Clin Genet; 1997 Jul; 52(1):51-5. PubMed ID: 9272713
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
    de Mattos VF; Graziadio C; Machado Rosa RF; Lenhardt R; Alves RP; Trevisan P; Paskulin GA; Zen PR
    Pediatr Neurol; 2014 Jun; 50(6):612-5. PubMed ID: 24690526
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
    Borochowitz Z; Langer LO; Gruber HE; Lachman R; Katznelson MB; Rimoin DL
    Am J Med Genet; 1993 Feb; 45(3):320-6. PubMed ID: 8434618
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
    dos Santos Rde C; Castro NH; Ferraz OP; Walter-Moura J; Mustachi Z; Pagnan NA; Gollop TR
    Am J Med Genet; 1992 Aug; 43(6):946-8. PubMed ID: 1415344
    [TBL] [Abstract][Full Text] [Related]  

  • 10. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia.
    Temtamy SA; Salam MA; Aboul-Ezz EH; Hussein HA; Helmy SA; Shalash BA
    Clin Dysmorphol; 1996 Jul; 5(3):231-40. PubMed ID: 8818452
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
    Jespers A; Buntinx I; Melis K; Vaerenberg M; Janssens G
    Am J Med Genet; 1993 Aug; 47(2):299-302. PubMed ID: 8213924
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report.
    Chaabouni M; Maazoul F; Ben Hamida A; Berhouma M; Marrakchi Z; Chaabouni H
    Am J Med Genet A; 2008 Jul; 146A(14):1825-7. PubMed ID: 18553510
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.
    Brodie SG; Lachman RS; McGovern MM; Mekikian PB; Wilcox WR
    Am J Med Genet; 1999 Apr; 83(5):372-7. PubMed ID: 10232746
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder.
    Gül D; Oktenli C; Sağlam M; Erdem U
    Clin Dysmorphol; 2000 Jan; 9(1):61-2. PubMed ID: 10649801
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
    Orstavik KH; Bechensteen AG; Fugelseth D; Orderud W
    Am J Med Genet; 1998 Jan; 75(3):300-3. PubMed ID: 9475602
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A new autosomal recessive lethal chondrodystrophy with congenital hydrops.
    Greenberg CR; Rimoin DL; Gruber HE; DeSa DJ; Reed M; Lachman RS
    Am J Med Genet; 1988 Mar; 29(3):623-32. PubMed ID: 3377005
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.
    Morton JE; Kilby MD; Rushton I
    Clin Dysmorphol; 1998 Apr; 7(2):109-14. PubMed ID: 9571280
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.
    Cantú JM; Hernández A; Ramírez J; Bernal M; Rubio G; Urrusti J; Franco-Vázquez S
    Birth Defects Orig Artic Ser; 1975; 11(5):91-8. PubMed ID: 1218241
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
    Rutledge JC; Friedman JM; Harrod MJ; Currarino G; Wright CG; Pinckney L; Chen H
    Am J Med Genet; 1984 Oct; 19(2):255-64. PubMed ID: 6507477
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.
    Mégarbané A; Ghanem I; Waked N; Dagher F
    Am J Med Genet A; 2006 Jul; 140(14):1491-6. PubMed ID: 16770799
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.