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Results: 1 to 20 of 103

1.

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 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.

PMID:
20493458
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.

J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4.

PMID:
21378380
[PubMed - indexed for MEDLINE]
3.

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Alazami AM, Seidahmed MZ, Alzahrani F, Mohammed AO, Alkuraya FS.

Mol Genet Genomic Med. 2014 Mar;2(2):103-6. doi: 10.1002/mgg3.44. Epub 2013 Dec 10.

PMID:
24689072
[PubMed]
Free PMC Article
4.

Cranioectodermal dysplasia: a probable ciliopathy.

Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E.

Am J Med Genet A. 2009 Oct;149A(10):2206-11. doi: 10.1002/ajmg.a.33013.

PMID:
19760621
[PubMed - indexed for MEDLINE]
5.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.

Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004.

PMID:
20817137
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.

Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.

PMID:
22019273
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE.

Am J Med Genet A. 2012 Nov;158A(11):2917-24. doi: 10.1002/ajmg.a.35608. Epub 2012 Sep 17.

PMID:
22987818
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Cranioectodermal Dysplasia.

Arts H, Knoers N.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2013 Sep 12.

9.

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. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3. Review.

PMID:
24123776
[PubMed - indexed for MEDLINE]
10.

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 1;140(21):2336-40.

PMID:
17022080
[PubMed - indexed for MEDLINE]
11.

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

Amar MJ, Sutphen R, Kousseff BG.

Am J Med Genet. 1997 Jun 27;70(4):349-52.

PMID:
9182772
[PubMed - indexed for MEDLINE]
12.

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.

Sprecher E, Molho-Pessach V, Ingber A, Sagi E, Indelman M, Bergman R.

J Invest Dermatol. 2004 Mar;122(3):647-51.

PMID:
15086548
[PubMed - indexed for MEDLINE]
Free Article
13.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP.

Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15.

PMID:
22177090
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

Fry AE, Klingenberg C, Matthes J, Heimdal K, Hennekam RC, Pilz DT.

Am J Med Genet A. 2009 Oct;149A(10):2212-5. doi: 10.1002/ajmg.a.33027.

PMID:
19760620
[PubMed - indexed for MEDLINE]
15.

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J.

Am J Hum Genet. 1997 Jul;61(1):94-100.

PMID:
9245989
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC.

Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14.

PMID:
21493627
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS.

Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21.

PMID:
23522784
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN.

PLoS One. 2013 Sep 26;8(9):e75770. doi: 10.1371/journal.pone.0075770. eCollection 2013.

PMID:
24086631
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Bibi N, Ahmad S, Ahmad W, Naeem M.

Australas J Dermatol. 2011 Feb;52(1):37-42. doi: 10.1111/j.1440-0960.2010.00685.x. Epub 2010 Aug 24.

PMID:
21332691
[PubMed - indexed for MEDLINE]
20.

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

Naeem M, Muhammad D, Ahmad W.

Br J Dermatol. 2005 Jul;153(1):46-50.

PMID:
16029325
[PubMed - indexed for MEDLINE]
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