152 related articles for article (PubMed ID: 9182772)
1. 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]
2. 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]
3. Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.
Tamai S; Tojo M; Kamimaki T; Sato Y; Nishimura G
Am J Med Genet; 2002 Jan; 107(1):78-80. PubMed ID: 11807876
[No Abstract] [Full Text] [Related]
4. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Lin AE; Traum AZ; Sahai I; Keppler-Noreuil K; Kukolich MK; Adam MP; Westra SJ; Arts HH
Am J Med Genet A; 2013 Nov; 161A(11):2762-76. PubMed ID: 24123776
[TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
Walczak-Sztulpa J; Wawrocka A; Swiader-Lesniak A; Socha M; Jamsheer A; Drozdz D; Latos-Bielenska A; Zachwieja K
Birth Defects Res; 2018 Mar; 110(4):376-381. PubMed ID: 29134781
[TBL] [Abstract][Full Text] [Related]
6. Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.
Wallis CE
Clin Genet; 1988 Oct; 34(4):252-7. PubMed ID: 3233778
[TBL] [Abstract][Full Text] [Related]
7. Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome.
Tajara EH; Pinheiro M; Freire-Maia N
Am J Med Genet; 1987 Jan; 26(1):153-6. PubMed ID: 3812555
[TBL] [Abstract][Full Text] [Related]
8. Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
Zaffanello M; Diomedi-Camassei F; Melzi ML; Torre G; Callea F; Emma F
Am J Med Genet A; 2006 Nov; 140(21):2336-40. PubMed ID: 17022080
[TBL] [Abstract][Full Text] [Related]
9. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Walczak-Sztulpa J; Posmyk R; Bukowska-Olech EM; Wawrocka A; Jamsheer A; Oud MM; Schmidts M; Arts HH; Latos-Bielenska A; Wasilewska A
Orphanet J Rare Dis; 2020 Feb; 15(1):36. PubMed ID: 32007091
[TBL] [Abstract][Full Text] [Related]
10. Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J; Wawrocka A; Sobierajewicz A; Kuszel L; Zawadzki J; Grenda R; Swiader-Lesniak A; Kocyla-Karczmarewicz B; Wnuk A; Latos-Bielenska A; Chrzanowska KH
Am J Med Genet A; 2017 May; 173(5):1364-1368. PubMed ID: 28332779
[TBL] [Abstract][Full Text] [Related]
11. The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.
Preus M; Fraser FC
Clin Genet; 1973; 4(5):369-75. PubMed ID: 4800520
[No Abstract] [Full Text] [Related]
12. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
Moosa S; Obregon MG; Altmüller J; Thiele H; Nürnberg P; Fano V; Wollnik B
Am J Med Genet A; 2016 May; 170A(5):1295-301. PubMed ID: 26792575
[TBL] [Abstract][Full Text] [Related]
13. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J; Wawrocka A; Stańczyk M; Pesz K; Dudarewicz L; Chrul S; Bukowska-Olech E; Wieczorek-Cichecka N; Arts HH; Oud MM; Śmigiel R; Grenda R; Obersztyn E; Chrzanowska KH; Latos-Bieleńska A
Am J Med Genet A; 2021 Apr; 185(4):1195-1203. PubMed ID: 33421337
[TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation.
Yang Y; Huang LY; Han J; Li DZ
Eur J Obstet Gynecol Reprod Biol; 2017 Jun; 213():146-147. PubMed ID: 28420484
[No Abstract] [Full Text] [Related]
15. Vertebral anomalies in a new family with ODED syndrome.
Piersall LD; Dowton SB; McAlister WH; Waggoner DJ
Clin Genet; 2000 Jun; 57(6):444-8. PubMed ID: 10905665
[TBL] [Abstract][Full Text] [Related]
16. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Walczak-Sztulpa J; Eggenschwiler J; Osborn D; Brown DA; Emma F; Klingenberg C; Hennekam RC; Torre G; Garshasbi M; Tzschach A; Szczepanska M; Krawczynski M; Zachwieja J; Zwolinska D; Beales PL; Ropers HH; Latos-Bielenska A; Kuss AW
Am J Hum Genet; 2010 Jun; 86(6):949-56. PubMed ID: 20493458
[TBL] [Abstract][Full Text] [Related]
17. Digitocutaneous dysplasia.
Izadpanah A; Hogeling M; Buka RL; Eichenfield LF; Bird LM
J Am Acad Dermatol; 2007 Feb; 56(2 Suppl):S6-9. PubMed ID: 17097382
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Maxillo-facial radiology case 118. Oculodentodigital dysplasia.
Nortjé CJ
SADJ; 2014 Mar; 69(2):76. PubMed ID: 24974522
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]