298 related articles for article (PubMed ID: 9950366)
21. [Congenital generalized cutis laxa].
Lambert D; Beer F; Jeannin-Magnificat C; Mabille JP; Israël J; Lambert-Weyl M; Nivelon-Chevalier A; Alison M
Ann Dermatol Venereol; 1983; 110(2):129-38. PubMed ID: 6881855
[TBL] [Abstract][Full Text] [Related]
22. [Surgical treatment of skin changes in cutis laxa (author's transl)].
Breitbart E; Mensing H; Meigel W
Z Hautkr; 1981 Jan; 56(2):90-7. PubMed ID: 7222885
[TBL] [Abstract][Full Text] [Related]
23. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C; Funke S; Knoers NV; Jira P; Wevers RA; Urban Z; Morava E
Acta Paediatr; 2009 Mar; 98(3):490-4. PubMed ID: 19055655
[TBL] [Abstract][Full Text] [Related]
24. Exclusion of growth factor gene mutations as a common cause of Sotos syndrome.
Lin AE; Liu Q; Mannheim GB; Darras BT
Am J Med Genet; 2001 Jan; 98(1):101-2. PubMed ID: 11426446
[TBL] [Abstract][Full Text] [Related]
25. Coexisting familial abnormalities of karyotype and phenotype. Chromosome 16 and an unusual form of cutis laxa with skin webs.
Garson OM; Baikie AG; O'Brien BM
Med J Aust; 1970 Aug; 2(5):235-8. PubMed ID: 5455786
[No Abstract] [Full Text] [Related]
26. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J; Lespinasse J; Vlckova M; Mensah MA; Iurian S; Simandlova M; Malikova M; Bartsch O; Rossi M; Lenoir M; Nugues F; Mundlos S; Kornak U; Stanier P; Sousa SB; Van Maldergem L
Am J Med Genet A; 2018 Mar; 176(3):668-675. PubMed ID: 29341480
[TBL] [Abstract][Full Text] [Related]
27. Cutis laxa, intrauterine growth retardation, and bilateral dislocation of the hips: a report of five cases.
Karrar ZA; Elidrissy AT; Adam KA
Prog Clin Biol Res; 1982; 104():215-22. PubMed ID: 6891788
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.
Malan V; De Blois MC; Prieur M; Perrier-Waill MC; Huguet-Nedjar C; Gegas L; Turleau C; Vekemans M; Munnich A; Romana SP
Clin Genet; 2008 Jan; 73(1):89-91. PubMed ID: 18042263
[No Abstract] [Full Text] [Related]
30. Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn.
Koklu E; Gunes T; Ozturk MA; Akcakus M; Buyukkayhan D; Kurtoglu S
Pediatr Dermatol; 2007; 24(5):525-8. PubMed ID: 17958802
[TBL] [Abstract][Full Text] [Related]
31. The de Barsy syndrome.
Arazi M; Kapicioğlu MI; Mutlu M
Turk J Pediatr; 2001; 43(1):79-84. PubMed ID: 11297166
[TBL] [Abstract][Full Text] [Related]
32. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A; Fischer B; Gardeitchik T; Schröter P; Kayserili H; Schlack C; Li Y; Brum JM; Barisic I; Castori M; Spaich C; Fletcher E; Mahayri Z; Bhat M; Girisha KM; Lachlan K; Johnson D; Phadke S; Gupta N; Simandlova M; Kabra M; David A; Nijtmans L; Chitayat D; Tuysuz B; Brancati F; Mundlos S; Van Maldergem L; Morava E; Wollnik B; Kornak U
Mol Genet Metab; 2013 Nov; 110(3):352-61. PubMed ID: 24035636
[TBL] [Abstract][Full Text] [Related]
33. [Cerebral gigantism (Sotos-syndrome) (author's transl)].
Lachmann D; Frisch H; Pölz E
Padiatr Padol; 1977; 12(4):404-9. PubMed ID: 198723
[TBL] [Abstract][Full Text] [Related]
34. Child with Sotos phenotype and a 5:15 translocation.
Maroun C; Schmerler S; Hutcheon RG
Am J Med Genet; 1994 Apr; 50(3):291-3. PubMed ID: 8042674
[TBL] [Abstract][Full Text] [Related]
35. [Cerebral gigantism (Sotos syndrome) in 7 Puerto Rican children].
Toro Solá M; Rivera Reyes L
Bol Asoc Med P R; 1984 Apr; 76(4):146-50. PubMed ID: 6586192
[No Abstract] [Full Text] [Related]
36. [Cutis laxa. Classification, clinical aspects and molecular defects].
Mensing H; Krieg T; Meigel W; Braun-Falco O
Hautarzt; 1984 Oct; 35(10):506-11. PubMed ID: 6500933
[TBL] [Abstract][Full Text] [Related]
37. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S; Gillessen-Kaesbach G; Meinecke P; Albrecht B; Neumann LM; Hesse V; Palanduz S; Balg S; Majewski F; Fuchs S; Zschieschang P; Greiwe M; Mennicke K; Kreuz FR; Dehmel HJ; Rodeck B; Kunze J; Tinschert S; Mundlos S; Horn D
Eur J Hum Genet; 2003 Nov; 11(11):858-65. PubMed ID: 14571271
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. NSD1 mutations in Sotos syndrome.
Faravelli F
Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):24-31. PubMed ID: 16010675
[TBL] [Abstract][Full Text] [Related]
40. Three novel mutations in greek sotos patients with rare clinical manifestations.
Leventopoulos G; Kitsiou-Tzeli S; Psoni S; Mavrou A; Kanavakis E; Willems P; Fryssira H
Horm Res; 2009 Jan; 71(1):45-51. PubMed ID: 19039236
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
