134 related articles for article (PubMed ID: 5173261)
1. Familial aggregation of a "new" connective-tissue disorder: a nosologic problem.
Welch JP; Aterman K; Day E; Roy DL
Birth Defects Orig Artic Ser; 1971 Jun; 7(8):204-13. PubMed ID: 5173261
[TBL] [Abstract][Full Text] [Related]
2. Sotos syndrome and cutis laxa.
Robertson SP; Bankier A
J Med Genet; 1999 Jan; 36(1):51-6. PubMed ID: 9950366
[TBL] [Abstract][Full Text] [Related]
3. Defective protein glycosylation in patients with cutis laxa syndrome.
Morava E; Wopereis S; Coucke P; Gillessen-Kaesbach G; Voit T; Smeitink J; Wevers R; Grünewald S
Eur J Hum Genet; 2005 Apr; 13(4):414-21. PubMed ID: 15657616
[TBL] [Abstract][Full Text] [Related]
4. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A; Janahi IA; Eltohami A; Zeid A; Faiyaz Ul Haque M; Teebi AS
Acta Paediatr; 2003 Apr; 92(4):456-62. PubMed ID: 12801113
[TBL] [Abstract][Full Text] [Related]
5. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
Morava E; Lefeber DJ; Urban Z; de Meirleir L; Meinecke P; Gillessen Kaesbach G; Sykut-Cegielska J; Adamowicz M; Salafsky I; Ranells J; Lemyre E; van Reeuwijk J; Brunner HG; Wevers RA
Eur J Hum Genet; 2008 Jan; 16(1):28-35. PubMed ID: 17971833
[TBL] [Abstract][Full Text] [Related]
6. [Congenital generalized cutis laxa: 5 cases].
Rybojad M; Baumann C; Godeau G; Moraillon I; Prigent F; Morel P; Bourrat E
Ann Dermatol Venereol; 1999 Apr; 126(4):317-9. PubMed ID: 10421933
[TBL] [Abstract][Full Text] [Related]
7. The clinical presentation of Ehlers-Danlos syndrome.
Lawrence EJ
Adv Neonatal Care; 2005 Dec; 5(6):301-14. PubMed ID: 16338669
[TBL] [Abstract][Full Text] [Related]
8. [Cardiovascular changes in the cutis laxa congenita syndrome].
Guía Torrent JM; Castro García F; Cuenca Gómez M; Gracián Gómez M
Rev Esp Cardiol; 1999 Mar; 52(3):204-6. PubMed ID: 10193176
[TBL] [Abstract][Full Text] [Related]
9. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
Scherrer DZ; Baptista MB; Matos AH; Maurer-Morelli CV; Steiner CE
Eur J Med Genet; 2013 Jun; 56(6):336-9. PubMed ID: 23531708
[No Abstract] [Full Text] [Related]
10. Congenital cutis laxa syndrome: type II autosomal recessive inheritance.
Tüysüz B; Arapoğlu M; Ilikkan B; Demirkesen C; Perk Y
Turk J Pediatr; 2003; 45(3):265-8. PubMed ID: 14696810
[TBL] [Abstract][Full Text] [Related]
11. [Arterial tortuosity syndrome].
Meyer S; Faiyaz-Ul-Haque M; Zankl M; Sailer NL; Marx N; Limbach HG; Lindinger A
Klin Padiatr; 2005; 217(1):36-40. PubMed ID: 15640971
[TBL] [Abstract][Full Text] [Related]
12. Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred.
Kozlova SI; Prytkov AN; Blinnikova OE; Sultanova FA; Bochkova DN
Am J Med Genet; 1984 Aug; 18(4):763-7. PubMed ID: 6237581
[TBL] [Abstract][Full Text] [Related]
13. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
Syx D; Malfait F; Van Laer L; Hellemans J; Hermanns-Lê T; Willaert A; Benmansour A; De Paepe A; Verloes A
Hum Genet; 2010 Jul; 128(1):79-88. PubMed ID: 20424861
[TBL] [Abstract][Full Text] [Related]
14. [Ehlers-Danlos syndrome--diagnosis and subclassification].
Rand-Hendriksen S; Wekre LL; Paus B
Tidsskr Nor Laegeforen; 2006 Aug; 126(15):1903-7. PubMed ID: 16915311
[TBL] [Abstract][Full Text] [Related]
15. [Ehlers-Danlos syndrome associated with neurological symptoms. Case report].
Kómár J; Kránitz G
Munch Med Wochenschr; 1968 Oct; 110(41):2351-4. PubMed ID: 4935871
[No Abstract] [Full Text] [Related]
16. Cardiovascular manifestations of heritable disorders of connective tissue.
Pyeritz RE
Prog Med Genet; 1983; 5():191-302. PubMed ID: 6407064
[No Abstract] [Full Text] [Related]
17. Connective tissue diseases: pseudoxanthoma elasticum, anetoderma, and Ehlers-Danlos syndrome in pregnancy.
Ramos-E-Silva M; Líbia Cardozo Pereira A; Bastos Oliveira G; Coelho da Silva Carneiro S
Clin Dermatol; 2006; 24(2):91-6. PubMed ID: 16487880
[TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Greally MT; Kalis NN; Agab W; Ardati K; Giurgea S; Kornak U; Van Maldergem L
Am J Med Genet A; 2014 May; 164A(5):1245-53. PubMed ID: 24478233
[TBL] [Abstract][Full Text] [Related]
19. Cystic kidneys associated with connective tissue disorders.
Kaplan BS; Kaplan P; Kessler A
Am J Med Genet; 1997 Mar; 69(2):133-7. PubMed ID: 9056549
[TBL] [Abstract][Full Text] [Related]
20. [Boy with dermatosparaxis (Ehlers-Danlos type VIIC)].
Pasch MC; Sillevis Smitt JH; Veenhuizen L; Kuiters GR; van Essen AJ
Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2435-6. PubMed ID: 11233042
[No Abstract] [Full Text] [Related]
[Next] [New Search]