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 *

178 related articles for article (PubMed ID: 31816441)

  • 21. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
    Schmidts M; Arts HH; Bongers EM; Yap Z; Oud MM; Antony D; Duijkers L; Emes RD; Stalker J; Yntema JB; Plagnol V; Hoischen A; Gilissen C; Forsythe E; Lausch E; Veltman JA; Roeleveld N; Superti-Furga A; Kutkowska-Kazmierczak A; Kamsteeg EJ; Elçioğlu N; van Maarle MC; Graul-Neumann LM; Devriendt K; Smithson SF; Wellesley D; Verbeek NE; Hennekam RC; Kayserili H; Scambler PJ; Beales PL; ; Knoers NV; Roepman R; Mitchison HM
    J Med Genet; 2013 May; 50(5):309-23. PubMed ID: 23456818
    [TBL] [Abstract][Full Text] [Related]  

  • 22. CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
    Tsai JJ; Hsu WB; Liu JH; Chang CW; Tang TK
    Sci Rep; 2019 Apr; 9(1):6037. PubMed ID: 30988386
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
    Zhang W; Taylor SP; Ennis HA; Forlenza KN; Duran I; Li B; Sanchez JAO; Nevarez L; Nickerson DA; Bamshad M; ; Lachman RS; Krakow D; Cohn DH
    Hum Mutat; 2018 Jan; 39(1):152-166. PubMed ID: 29068549
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
    McInerney-Leo AM; Wheeler L; Marshall MS; Anderson LK; Zankl A; Brown MA; Leo PJ; Wicking C; Duncan EL
    Am J Med Genet A; 2017 Jun; 173(6):1698-1704. PubMed ID: 28422394
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ciliary disorder of the skeleton.
    Huber C; Cormier-Daire V
    Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):165-74. PubMed ID: 22791528
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.
    Asseri AA; Alzoani AA; Almahdi M; Almahdi H; Almushayt N; Alyazidi NS; Al Mufarrih BM
    Int Med Case Rep J; 2024; 17():209-214. PubMed ID: 38550721
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
    Schmidts M; Vodopiutz J; Christou-Savina S; Cortés CR; McInerney-Leo AM; Emes RD; Arts HH; Tüysüz B; D'Silva J; Leo PJ; Giles TC; Oud MM; Harris JA; Koopmans M; Marshall M; Elçioglu N; Kuechler A; Bockenhauer D; Moore AT; Wilson LC; Janecke AR; Hurles ME; Emmet W; Gardiner B; Streubel B; Dopita B; Zankl A; Kayserili H; Scambler PJ; Brown MA; Beales PL; Wicking C; ; Duncan EL; Mitchison HM
    Am J Hum Genet; 2013 Nov; 93(5):932-44. PubMed ID: 24183451
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).
    Keogh SJ; McKee S; Smithson SF; Grier D; Steward CG
    BMC Pediatr; 2012 May; 12():48. PubMed ID: 22554078
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. [Infant respiratory distress revealing Jeune syndrome].
    Page J; Bodart E; Hennecker JL
    Arch Pediatr; 2017 Jan; 24(1):41-44. PubMed ID: 27889373
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.
    Nagai T; Nishimura G; Kato R; Hasegawa T; Ohashi H; Fukushima Y
    Am J Med Genet; 1995 Jan; 55(1):16-8. PubMed ID: 7702088
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
    Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH
    Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
    Inskeep KA; Zarate YA; Monteil D; Spranger J; Doherty D; Stottmann RW; Weaver KN
    Am J Med Genet A; 2022 Jan; 188(1):104-115. PubMed ID: 34523780
    [TBL] [Abstract][Full Text] [Related]  

  • 38. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
    Schmidts M; Hou Y; Cortés CR; Mans DA; Huber C; Boldt K; Patel M; van Reeuwijk J; Plaza JM; van Beersum SE; Yap ZM; Letteboer SJ; Taylor SP; Herridge W; Johnson CA; Scambler PJ; Ueffing M; Kayserili H; Krakow D; King SM; ; Beales PL; Al-Gazali L; Wicking C; Cormier-Daire V; Roepman R; Mitchison HM; Witman GB
    Nat Commun; 2015 Jun; 6():7074. PubMed ID: 26044572
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
    Bosakova M; Abraham SP; Nita A; Hruba E; Buchtova M; Taylor SP; Duran I; Martin J; Svozilova K; Barta T; Varecha M; Balek L; Kohoutek J; Radaszkiewicz T; Pusapati GV; Bryja V; Rush ET; Thiffault I; Nickerson DA; Bamshad MJ; ; Rohatgi R; Cohn DH; Krakow D; Krejci P
    EMBO Mol Med; 2020 Nov; 12(11):e11739. PubMed ID: 33200460
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.