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Results 1 to 25 of 46

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FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasiaNAZ, G; PASTERNACK, S. M; PERRIN, C et al.British journal of dermatology (1951). 2012, Vol 166, Num 5, pp 1088-1094, issn 0007-0963, 7 p.Article

A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasiaRAZA, S. I; MUHAMMAD, N; KHAN, S et al.British journal of dermatology (1951). 2013, Vol 168, Num 2, pp 422-425, issn 0007-0963, 4 p.Article

Onycho-ostéo-dysplasie = Nail patella syndromeALBECQ, J. F; LEONARD, J. C; MORIN, C et al.Le Pédiatre. 1989, Vol 25, Num 118, pp 279-285, issn 0397-9180, 5 p.Article

Congenital onychodysplasia of the index fingersMIURA, T; NAKAMURA, R.The Journal of hand surgery (St. Louis, Mo.). 1990, Vol 15, Num 5, pp 793-797, issn 0363-5023, 5 p.Article

Onychodysplasia of the FingersMARTI, Nuria; VILLALON, Guillermo; LOPEZ, Veronica et al.Pediatric dermatology. 2008, Vol 25, Num 3, pp 381-382, issn 0736-8046, 1 p.Article

Kongenitale Onychodysplasie (Iso-Kikuchi-Syndrom) = Congenital onychodysplasia (Iso-Kikuchi syndrome )BIEDERMANN, T; SCHIRREN, C. G; SCHIRREN, H et al.Hautarzt. 1995, Vol 46, Num 1, pp 53-56, issn 0017-8470Article

A family with pachyonychia congenita affecting the nails onlyPRYCE, D. W; VERBOV, J. L.Clinical and experimental dermatology (Print). 1994, Vol 19, Num 6, pp 521-522, issn 0307-6938Article

Further delineation of the odonto-onycho-dermal dysplasia syndromeMEGARBANE, Hala; HADDAD, May; DELAGUE, Valérie et al.American journal of medical genetics. 2004, Vol 129A, Num 2, pp 193-197, issn 0148-7299, 5 p.Article

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3RAFIQ, M. A; ANSAR, M; PHAM, T et al.Clinical genetics. 2004, Vol 66, Num 1, pp 73-78, issn 0009-9163, 6 p.Article

Ostéo-onychodysplasie héréditaire. A propos d'un cas = Hereditary osteo-onychodysplasia. A case reportBONNEFOY, D.Les Nouvelles dermatologiques. 2001, Vol 20, Num 3, issn 0752-5370, p. 148Conference Paper

New ectodermal dysplasia with mental retardation and syndactylyILYINA, H. G; AMOASHY, D. S; GRYGORY, H. A et al.American journal of medical genetics. 1995, Vol 58, Num 4, pp 345-347, issn 0148-7299Article

Pili torti and onychodysplasia : report of a previously undescribed hidrotic ectodermal dysplasiaCALZAVARA-PINTON, P; CARLINO, A; BENETTI, A et al.Dermatologica. 1991, Vol 182, Num 3, pp 184-187, issn 0011-9075Article

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal DysplasiaZHIMIAOLIN; QUANCHEN; RUO XIAO et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 906-911, issn 0002-9297, 6 p.Article

Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13KREBSOVA, Alice; HAMM, Henning; KARL, Susanne et al.Journal of investigative dermatology. 2000, Vol 115, Num 4, pp 664-667, issn 0022-202XArticle

New form of hidrotic ectodermal dysplasia in a Lebanese familyMEGARBANE, A; NOUJEIM, Z; FABRE, M et al.American journal of medical genetics. 1998, Vol 75, Num 2, pp 196-199, issn 0148-7299Article

OnychomatricomaHANEKE, E; FRÄNKEN, J.Dermatologic surgery. 1995, Vol 21, Num 11, pp 984-987, issn 1076-0512Article

Systematized porokeratotic eccrine and hair follicle naevus: report of a case and review of the literatureKROUMPOUZOS, G; STEFANATO, C. M; WILKEL, C. S et al.British journal of dermatology (1951). 1999, Vol 141, Num 6, pp 1092-1096, issn 0007-0963Article

Congenital onychodysplasia of the index fingers: Iso-Kikuchi syndrome. A case involving the second toenailYOUN, S. H; KWON, O. S; PARK, K. C et al.Clinical and experimental dermatology (Print). 1996, Vol 21, Num 6, pp 457-458, issn 0307-6938Article

Syndrome de «nail-patella» sans attente extrarénale. Une nouvelle néphropathie héréditaire glomérulaire = Nail-patella syndrome with no extrarenal manifestations: a new inheritable glomerular diseaseGUBLER, M. C; DOMMERGUES, J. P; FURIOLI, J et al.Annales de pédiatrie (Paris). 1990, Vol 37, Num 8, pp 78-82, issn 0066-2097Article

Nail-Patella-Syndrom (NPS): Fallbericht und Literaturübersicht = Nail-Patella Syndrome: étude cas et revue de la littérature = Nail-Patella Syndrome: case report and litterature reviewWAGNER, J.Röntgen-Blätter. 1989, Vol 42, Num 10, pp 441-446, issn 0300-8592Article

Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous familiesALI, R. H; HABIB, R; UD-DIN, N et al.British journal of dermatology (1951). 2013, Vol 169, Num 2, pp 478-480, issn 0007-0963, 3 p.Article

Nail-patella syndrome and renal involvement. Description of three cases and literature reviewGRANATA, A; NORI, G; RAVAZZOLO, R et al.Clinical nephrology. 2008, Vol 69, Num 5, pp 377-382, issn 0301-0430, 6 p.Article

Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafnessAKHYANI, Maryam; KIAVASH, Katrin.Indian Journal of Dermatology Venereology and Leprology. 2007, Vol 73, Num 6, pp 409-411, issn 0378-6323, 3 p.Article

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail typeNAEEM, M; WAJID, M; LEE, K et al.Journal of medical genetics. 2006, Vol 43, Num 3, pp 274-279, issn 0022-2593, 6 p.Article

Ectodermal dysplasia of hair and nail type : mapping of a novel locus to chromosome 17p12-q21.2NAEEM, M; JELANI, M; AHMAD, W et al.British journal of dermatology (1951). 2006, Vol 155, Num 6, pp 1184-1190, issn 0007-0963, 7 p.Article

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