165 related articles for article (PubMed ID: 9507398)
1. Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
Silengo M; Silvestro L; Capizzi G; Lerone M; Seri M; Rosaia L; Romeo G
J Med Genet; 1998 Feb; 35(2):157-8. PubMed ID: 9507398
[TBL] [Abstract][Full Text] [Related]
2. Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.
Fryns JP; Chrzanowska K; Van den Berghe H
J Med Genet; 1989 Aug; 26(8):520-1. PubMed ID: 2769725
[TBL] [Abstract][Full Text] [Related]
3. A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.
Argenziano G; Monsurrò MR; Pazienza R; Delfino M
J Am Acad Dermatol; 1998 Feb; 38(2 Pt 2):344-8. PubMed ID: 9486713
[TBL] [Abstract][Full Text] [Related]
4. Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia--central nervous system malformation syndrome.
Silengo M; Pietragalla A; Jarre L
Am J Med Genet; 1997 Aug; 71(2):226-8. PubMed ID: 9217228
[TBL] [Abstract][Full Text] [Related]
5. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
Yoshida K; Hayashi R; Fujita H; Kubota M; Kondo M; Shimomura Y; Niizeki H
J Dermatol; 2015 Jul; 42(7):715-9. PubMed ID: 25913853
[TBL] [Abstract][Full Text] [Related]
6. Hypohidrotic ectodermal dysplasia with hypothyroidism.
Pabst HF; Groth O; McCoy EE
J Pediatr; 1981 Feb; 98(2):223-7. PubMed ID: 7463217
[TBL] [Abstract][Full Text] [Related]
7. Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly.
Trüeb R; Burg G; Bottani A; Schinzel A
J Am Acad Dermatol; 1994 Feb; 30(2 Pt 1):289-90. PubMed ID: 8141890
[No Abstract] [Full Text] [Related]
8. Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
Soekarman D; Fryns JP
J Med Genet; 1993 Mar; 30(3):245-7. PubMed ID: 8474109
[TBL] [Abstract][Full Text] [Related]
9. Syndactyly, ectodermal dysplasia, and cleft lip/palate.
Zlotogora J
J Med Genet; 1994 Dec; 31(12):957-9. PubMed ID: 7891379
[No Abstract] [Full Text] [Related]
10. Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome.
Curatolo P; Cilio MR; Del Giudice E; Romano A; Gaggero R; Pessagno A
Neuropediatrics; 1993 Apr; 24(2):77-82. PubMed ID: 8327066
[TBL] [Abstract][Full Text] [Related]
11. Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome).
Amar MJ; Sutphen R; Kousseff BG
Am J Med Genet; 1997 Jun; 70(4):349-52. PubMed ID: 9182772
[TBL] [Abstract][Full Text] [Related]
12. A newly recognized autosomal dominant ectodermal dysplasia syndrome: the odonto-tricho-ungual-digital-palmar syndrome.
Mendoza HR; Valiente MD
Am J Med Genet; 1997 Aug; 71(2):144-9. PubMed ID: 9217212
[TBL] [Abstract][Full Text] [Related]
13. Sporadic trichodental dysplasia with microcephaly and mental retardation.
Giannotti A; Digilio MC; Albertini G; Mingarelli R; Dallapiccola B
Clin Dysmorphol; 1995 Oct; 4(4):334-7. PubMed ID: 8574424
[TBL] [Abstract][Full Text] [Related]
14. Johanson-Blizzard syndrome.
Almashraki N; Abdulnabee MZ; Sukalo M; Alrajoudi A; Sharafadeen I; Zenker M
World J Gastroenterol; 2011 Oct; 17(37):4247-50. PubMed ID: 22072859
[TBL] [Abstract][Full Text] [Related]
15. Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.
Martínez B; Monasterio L; Pinheiro M; Freire-Maia N
Am J Med Genet; 1987 May; 27(1):23-31. PubMed ID: 3037904
[TBL] [Abstract][Full Text] [Related]
16. Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.
Zannolli R; Mostardini R; Carpentieri ML; Gatti MG; Galluzzi P; Terrosi Vagnoli P; Giorgetti R; Calvieri S; Morgese G
Pediatr Dermatol; 2001; 18(4):332-5. PubMed ID: 11576410
[TBL] [Abstract][Full Text] [Related]
17. Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome.
Rodini ES; Richieri-Costa A
Am J Med Genet; 1990 Aug; 36(4):473-6. PubMed ID: 2167611
[TBL] [Abstract][Full Text] [Related]
18. Agenesis of corpus callosum: clinical description and etiology.
Marszał E; Jamroz E; Pilch J; Kluczewska E; Jabłecka-Deja H; Krawczyk R
J Child Neurol; 2000 Jun; 15(6):401-5. PubMed ID: 10868784
[TBL] [Abstract][Full Text] [Related]
19. Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.
Zamboni G; Bernardi F; Danesino C; del Majno UM; Beghini G; Dalla Bernardina B
J Med Genet; 1980 Feb; 17(1):59-61. PubMed ID: 7365765
[TBL] [Abstract][Full Text] [Related]
20. Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution.
Yildirim MS; Ogun TC; Kamiş U
Genet Couns; 2006; 17(2):149-53. PubMed ID: 16970031
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]