BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 14629506)

  • 21. Parental consanguinity in two sibs with omodysplasia.
    Baxová A; Maroteaux P; Barosová J; Netriová I
    Am J Med Genet; 1994 Feb; 49(3):263-5. PubMed ID: 8209882
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Guadalajara camptodactyly syndrome type I. A corroborative family.
    Figuera LE; Ramírez-Dueñas ML; García-Cruz D; Villar V; Cantú JM
    Clin Genet; 1993 Jan; 43(1):11-5. PubMed ID: 7681735
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Short rib-polydactyly syndrome, Majewski type.
    Chen H; Yang SS; Gonzalez E; Fowler M; Al Saadi A
    Am J Med Genet; 1980; 7(2):215-22. PubMed ID: 7468649
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.
    Ben-Omran T; Lakhani S; Almureikhi M; Ali R; Takahashi A; Miyake N; Matsumoto N; Ikegawa S; Superti-Furga A; Unger S
    Am J Med Genet A; 2014 Sep; 164A(9):2147-52. PubMed ID: 24975242
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P; Testa A; Bogetti G; Girardo E; Guala A; Lopez-Bell G; Buzio G; Ferrario E; Piccato E
    Am J Med Genet; 1992 Jan; 42(1):112-6. PubMed ID: 1308349
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Acromesomelic dysplasia.
    Langer LO; Garrett RT
    Radiology; 1980 Nov; 137(2):349-55. PubMed ID: 7433666
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
    Pacheco-Cuéllar G; Gauthier J; Désilets V; Lachance C; Lemire-Girard M; Rypens F; Le Deist F; Decaluwe H; Duval M; Bouron-Dal Soglio D; Kokta V; Haddad É; Campeau PM
    J Bone Miner Res; 2017 Sep; 32(9):1853-1859. PubMed ID: 28543917
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prenatal sonographic diagnosis of skeletal dysplasias.
    Schramm T; Gloning KP; Minderer S; Daumer-Haas C; Hörtnagel K; Nerlich A; Tutschek B
    Ultrasound Obstet Gynecol; 2009 Aug; 34(2):160-70. PubMed ID: 19548204
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Larsen-syndrome: final diagnosis following multiple surgical interventions].
    Kisfali P; Komlósi K; Hadzsiev K; Melegh B
    Orv Hetil; 2013 Jan; 154(4):143-6. PubMed ID: 23335724
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene.
    Forster KR; Hooper JE; Blakemore KJ; Baschat AA; Hoover-Fong J
    Am J Med Genet A; 2019 Dec; 179(12):2490-2493. PubMed ID: 31587486
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
    Gaspar IM; Saldanha T; Cabral P; Vilhena MM; Tuna M; Costa C; Dagoneau N; Daire VC; Hennekam RC
    Am J Med Genet A; 2008 Jul; 146A(13):1748-53. PubMed ID: 18546280
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
    Sabry MA; Zaki M; Abul Hassan SJ; Ramadan DG; Abdel Rasool MA; al Awadi SA; al Saleh Q
    J Med Genet; 1998 Jan; 35(1):31-6. PubMed ID: 9475091
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mandibulo-acral dysplasia.
    Hoeffel JC; Mainard L; Chastagner P; Hoeffel CC
    Skeletal Radiol; 2000 Nov; 29(11):668-71. PubMed ID: 11201039
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
    Faivre L; Cormier-Daire V; Eliott AM; Field F; Munnich A; Maroteaux P; Le Merrer M; Lachman R
    Am J Med Genet A; 2004 Jan; 124A(1):48-53. PubMed ID: 14679586
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.
    Miyatake S; Murakami A; Okamoto N; Sakamoto M; Miyake N; Saitsu H; Matsumoto N
    Am J Med Genet A; 2013 May; 161A(5):1073-7. PubMed ID: 23463723
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.
    Bannykh SI; Emery SC; Gerber JK; Jones KL; Benirschke K; Masliah E
    Am J Med Genet A; 2003 Jul; 120A(2):241-6. PubMed ID: 12833407
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of CANT1 mutations in Desbuquois dysplasia.
    Huber C; Oulès B; Bertoli M; Chami M; Fradin M; Alanay Y; Al-Gazali LI; Ausems MG; Bitoun P; Cavalcanti DP; Krebs A; Le Merrer M; Mortier G; Shafeghati Y; Superti-Furga A; Robertson SP; Le Goff C; Muda AO; Paterlini-Bréchot P; Munnich A; Cormier-Daire V
    Am J Hum Genet; 2009 Nov; 85(5):706-10. PubMed ID: 19853239
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.
    Temtamy SA; El-Meligh MR; Badrawy HS; Meguid MS; Safwat HM
    Birth Defects Orig Artic Ser; 1974; 10(12):61-71. PubMed ID: 4461093
    [No Abstract]   [Full Text] [Related]  

  • 39. A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.
    Lim JH; Seo EJ; Kim YM; Cho HJ; Lee JO; Cheon CK; Yoo HW
    Ann Lab Med; 2014 Sep; 34(5):390-4. PubMed ID: 25187894
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Marden-Walker syndrome in two siblings.
    Chia FL; Chia F
    J Paediatr Child Health; 1993 Aug; 29(4):312-4. PubMed ID: 7690581
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.