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 *

184 related articles for article (PubMed ID: 28370949)

  • 1. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
    Silveira KC; Moreno CA; Cavalcanti DP
    Am J Med Genet A; 2017 May; 173(5):1186-1189. PubMed ID: 28370949
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
    Ashraf T; Vaina C; Giri D; Burren CP; James M; Offiah AC; Overton T; Baptista J; Ellard S; Smithson SF
    Am J Med Genet A; 2020 Oct; 182(10):2403-2408. PubMed ID: 32783357
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
    Kakar N; Horn D; Decker E; Sowada N; Kubisch C; Ahmad J; Borck G; Bergmann C
    Am J Med Genet A; 2018 Feb; 176(2):438-442. PubMed ID: 29271569
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
    Cabaud O; Roubin R; Comte A; Bascunana V; Sergé A; Sedjaï F; Birnbaum D; Rosnet O; Acquaviva C
    Hum Mol Genet; 2018 Oct; 27(19):3377-3391. PubMed ID: 29982567
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
    Bizaoui V; Huber C; Kohaut E; Roume J; Bonnière M; Attié-Bitach T; Cormier-Daire V
    Am J Med Genet A; 2019 Apr; 179(4):639-644. PubMed ID: 30767363
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
    Badiner N; Taylor SP; Forlenza K; Lachman RS; ; Bamshad M; Nickerson D; Cohn DH; Krakow D
    Clin Genet; 2017 Aug; 92(2):158-165. PubMed ID: 27925158
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
    El Hokayem J; Huber C; Couvé A; Aziza J; Baujat G; Bouvier R; Cavalcanti DP; Collins FA; Cordier MP; Delezoide AL; Gonzales M; Johnson D; Le Merrer M; Levy-Mozziconacci A; Loget P; Martin-Coignard D; Martinovic J; Mortier GR; Perez MJ; Roume J; Scarano G; Munnich A; Cormier-Daire V
    J Med Genet; 2012 Apr; 49(4):227-33. PubMed ID: 22499340
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
    Zhang X; You Y; Xie X; Xu H; Zhou H; Lei Y; Sun P; Meng Y; Wang L; Lu Y
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1524. PubMed ID: 33030252
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.
    Yang SS; Roth JA; Langer LO
    Am J Med Genet; 1991 Jun; 39(3):243-6. PubMed ID: 1867272
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
    Chen CP; Ko TM; Chang TY; Chern SR; Chen SW; Lai ST; Chuang TY; Wang W
    Taiwan J Obstet Gynecol; 2018 Feb; 57(1):123-127. PubMed ID: 29458881
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes.
    Chen H; Mirkin D; Yang S
    Am J Med Genet; 1994 Nov; 53(2):165-71. PubMed ID: 7856642
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
    Córdova-Fletes C; Becerra-Solano LE; Rangel-Sosa MM; Rivas-Estilla AM; Alberto Galán-Huerta K; Ortiz-López R; Rojas-Martínez A; Juárez-Vázquez CI; García-Ortiz JE
    Eur J Med Genet; 2018 Mar; 61(3):161-167. PubMed ID: 29174089
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
    Zhang W; Taylor SP; Nevarez L; Lachman RS; Nickerson DA; Bamshad M; ; Krakow D; Cohn DH
    Hum Mol Genet; 2016 Sep; 25(18):4012-4020. PubMed ID: 27466190
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
    McInerney-Leo AM; Schmidts M; Cortés CR; Leo PJ; Gener B; Courtney AD; Gardiner B; Harris JA; Lu Y; Marshall M; ; Scambler PJ; Beales PL; Brown MA; Zankl A; Mitchison HM; Duncan EL; Wicking C
    Am J Hum Genet; 2013 Sep; 93(3):515-23. PubMed ID: 23910462
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.