These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 35281231)

  • 21. 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. PubMed ID: 24689072
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identical
    Walczak-Sztulpa J; Wawrocka A; Doornbos C; van Beek R; Sowińska-Seidler A; Jamsheer A; Bukowska-Olech E; Latos-Bieleńska A; Grenda R; Bongers EMHF; Schmidts M; Obersztyn E; Krawczyński MR; Oud MM
    Front Genet; 2022; 13():931822. PubMed ID: 35873489
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
    Smith C; Lamont RE; Wade A; Bernier FP; Parboosingh JS; Innes AM
    Am J Med Genet A; 2016 Mar; 170(3):760-5. PubMed ID: 26691894
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 87(3):418-23. PubMed ID: 20817137
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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. PubMed ID: 21378380
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.
    Ishida Y; Kobayashi T; Chiba S; Katoh Y; Nakayama K
    Hum Mol Genet; 2021 Apr; 30(3-4):213-225. PubMed ID: 33517396
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
    Sharova M; Markova T; Sumina M; Petukhova M; Bulakh M; Ryzhkova O; Nagornova T; Ionova S; Marakhonov A; Dadali E; Kutsev S
    Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628605
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
    Li Y; Garrod AS; Madan-Khetarpal S; Sreedher G; McGuire M; Yagi H; Klena NT; Gabriel GC; Khalifa O; Zahid M; Panigrahy A; Weiner DJ; Lo CW
    Am J Med Genet A; 2015 Sep; 167A(9):2188-96. PubMed ID: 25914204
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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. PubMed ID: 22987818
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Skeletal ciliopathies: a pattern recognition approach.
    Handa A; Voss U; Hammarsjö A; Grigelioniene G; Nishimura G
    Jpn J Radiol; 2020 Mar; 38(3):193-206. PubMed ID: 31965514
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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. PubMed ID: 19760620
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
    Yoshikawa T; Kamei K; Nagata H; Saida K; Sato M; Ogura M; Ito S; Miyazaki O; Urushihara M; Kondo S; Sugawara N; Ishizuka K; Hamasaki Y; Shishido S; Morisada N; Iijima K; Nagata M; Yoshioka T; Ogata K; Ishikura K
    Nephrology (Carlton); 2017 Jul; 22(7):566-571. PubMed ID: 28621010
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].
    Costet C; Betis F; Bérard E; Tsimaratos M; Sigaudy S; Antignac C; Gastaud P
    J Fr Ophtalmol; 2000 Feb; 23(2):158-60. PubMed ID: 10705117
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.
    Takahara M; Katoh Y; Nakamura K; Hirano T; Sugawa M; Tsurumi Y; Nakayama K
    Hum Mol Genet; 2018 Feb; 27(3):516-528. PubMed ID: 29220510
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.
    Obikane K; Nakashima T; Watarai Y; Morita K; Cho K; Tonoki H; Nagata M; Sasaki S
    Pediatr Nephrol; 2006 Apr; 21(4):574-6. PubMed ID: 16491415
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.
    Kaynar K; Kayıpmaz S; Çebi AH; Hüseynova Ş
    Balkan J Med Genet; 2021 Nov; 24(2):83-87. PubMed ID: 36249524
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
    Girisha KM; Shukla A; Trujillano D; Bhavani GS; Hebbar M; Kadavigere R; Rolfs A
    Clin Genet; 2016 Dec; 90(6):536-539. PubMed ID: 26880018
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
    Hoffer JL; Fryssira H; Konstantinidou AE; Ropers HH; Tzschach A
    Clin Genet; 2013 Jan; 83(1):92-5. PubMed ID: 22486404
    [No Abstract]   [Full Text] [Related]  

  • 40. [Clinical features and mutational analysis of a case with Sensenbrenner syndrome].
    Jia S; Yang J; He T; Li W; Luo X; Huang Y; Li C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):426-428. PubMed ID: 29896747
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.