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]