BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 38920647)

  • 1. Biallelic Variants in
    Hjeij R; Leslie J; Rizk H; Dworniczak B; Olbrich H; Raidt J; Bode SFN; Gardham A; Stals K; Al-Haggar M; Osman E; Crosby A; Eldesoky T; Baple E; Omran H
    Cells; 2024 Jun; 13(12):. PubMed ID: 38920647
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
    Ta-Shma A; Hjeij R; Perles Z; Dougherty GW; Abu Zahira I; Letteboer SJF; Antony D; Darwish A; Mans DA; Spittler S; Edelbusch C; Cindrić S; Nöthe-Menchen T; Olbrich H; Stuhlmann F; Aprea I; Pennekamp P; Loges NT; Breuer O; Shaag A; Rein AJJT; Gulec EY; Gezdirici A; Abitbul R; Elias N; Amirav I; Schmidts M; Roepman R; Elpeleg O; Omran H
    PLoS Genet; 2018 Aug; 14(8):e1007602. PubMed ID: 30148830
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MNS1 variant associated with situs inversus and male infertility.
    Leslie JS; Rawlins LE; Chioza BA; Olubodun OR; Salter CG; Fasham J; Jones HF; Cross HE; Lam S; Harlalka GV; Muggenthaler MMA; Crosby AH; Baple EL
    Eur J Hum Genet; 2020 Jan; 28(1):50-55. PubMed ID: 31534215
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
    Leslie JS; Hjeij R; Vivante A; Bearce EA; Dyer L; Wang J; Rawlins L; Kennedy J; Ubeyratna N; Fasham J; Irons ZH; Craig SB; Koenig J; George S; Pode-Shakked B; Bolkier Y; Barel O; Mane S; Frederiksen KK; Wenger O; Scott E; Cross HE; Lorentzen E; Norris DP; Anikster Y; Omran H; Grimes DT; Crosby AH; Baple EL
    Genet Med; 2022 Nov; 24(11):2249-2261. PubMed ID: 36074124
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
    Shapiro AJ; Davis SD; Ferkol T; Dell SD; Rosenfeld M; Olivier KN; Sagel SD; Milla C; Zariwala MA; Wolf W; Carson JL; Hazucha MJ; Burns K; Robinson B; Knowles MR; Leigh MW;
    Chest; 2014 Nov; 146(5):1176-1186. PubMed ID: 24577564
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
    Devlin LA; Coles J; Jackson CL; Barroso-Gil M; Green B; Walker WT; Thomas NS; Thompson J; Rock SA; Neatu R; Powell L; Molinari E; ; Wilson IJ; Cordell HJ; Olinger E; Miles CG; Sayer JA; Wheway G; Lucas JS
    Clin Genet; 2023 Mar; 103(3):330-334. PubMed ID: 36273371
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
    Onoufriadis A; Shoemark A; Munye MM; James CT; Schmidts M; Patel M; Rosser EM; Bacchelli C; Beales PL; Scambler PJ; Hart SL; Danke-Roelse JE; Sloper JJ; Hull S; Hogg C; Emes RD; Pals G; Moore AT; Chung EM; ; Mitchison HM
    J Med Genet; 2014 Jan; 51(1):61-7. PubMed ID: 24203976
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Truncating mutations in exons 20 and 21 of
    Bukowy-Bieryllo Z; Rabiasz A; Dabrowski M; Pogorzelski A; Wojda A; Dmenska H; Grzela K; Sroczynski J; Witt M; Zietkiewicz E
    J Med Genet; 2019 Nov; 56(11):769-777. PubMed ID: 31366608
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
    Breuer K; Riedhammer KM; Müller N; Schaidinger B; Dombrowsky G; Dittrich S; Zeidler S; Bauer UMM; Westphal DS; Meitinger T; Dakal TC; Hitz MP; Breuer J; Reutter H; Hilger AC; Hoefele J
    Eur J Hum Genet; 2022 Aug; 30(8):946-954. PubMed ID: 35474353
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
    Fassad MR; Shoemark A; Legendre M; Hirst RA; Koll F; le Borgne P; Louis B; Daudvohra F; Patel MP; Thomas L; Dixon M; Burgoyne T; Hayes J; Nicholson AG; Cullup T; Jenkins L; Carr SB; Aurora P; Lemullois M; Aubusson-Fleury A; Papon JF; O'Callaghan C; Amselem S; Hogg C; Escudier E; Tassin AM; Mitchison HM
    Am J Hum Genet; 2018 Dec; 103(6):984-994. PubMed ID: 30471717
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
    Moore DJ; Onoufriadis A; Shoemark A; Simpson MA; zur Lage PI; de Castro SC; Bartoloni L; Gallone G; Petridi S; Woollard WJ; Antony D; Schmidts M; Didonna T; Makrythanasis P; Bevillard J; Mongan NP; Djakow J; Pals G; Lucas JS; Marthin JK; Nielsen KG; Santoni F; Guipponi M; Hogg C; Antonarakis SE; Emes RD; Chung EM; Greene ND; Blouin JL; Jarman AP; Mitchison HM
    Am J Hum Genet; 2013 Aug; 93(2):346-56. PubMed ID: 23891471
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
    Epting D; Senaratne LDS; Ott E; Holmgren A; Sumathipala D; Larsen SM; Wallmeier J; Bracht D; Frikstad KM; Crowley S; Sikiric A; Barøy T; Käsmann-Kellner B; Decker E; Decker C; Bachmann N; Patzke S; Phelps IG; Katsanis N; Giles R; Schmidts M; Zucknick M; Lienkamp SS; Omran H; Davis EE; Doherty D; Strømme P; Frengen E; Bergmann C; Misceo D
    Hum Mutat; 2020 Dec; 41(12):2179-2194. PubMed ID: 33131181
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biallelic Variants in
    Shi X; Geng H; Yu H; Hu X; Wang G; Yang J; Zhao H
    Biomed Res Int; 2022; 2022():7130555. PubMed ID: 35795318
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
    Fassad MR; Rumman N; Junger K; Patel MP; Thompson J; Goggin P; Ueffing M; Beyer T; Boldt K; Lucas JS; Mitchison HM
    Hum Mol Genet; 2023 Oct; 32(21):3090-3104. PubMed ID: 37555648
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Motile ciliopathies.
    Wallmeier J; Nielsen KG; Kuehni CE; Lucas JS; Leigh MW; Zariwala MA; Omran H
    Nat Rev Dis Primers; 2020 Sep; 6(1):77. PubMed ID: 32943623
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
    Chen W; Wang F; Zeng W; Zhang X; Shen L; Zhang Y; Zhou X
    Hum Genomics; 2022 Oct; 16(1):48. PubMed ID: 36273201
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
    Bonnefoy S; Watson CM; Kernohan KD; Lemos M; Hutchinson S; Poulter JA; Crinnion LA; Berry I; Simmonds J; Vasudevan P; O'Callaghan C; Hirst RA; Rutman A; Huang L; Hartley T; Grynspan D; Moya E; Li C; Carr IM; Bonthron DT; Leroux M; ; Boycott KM; Bastin P; Sheridan EG
    Am J Hum Genet; 2018 Nov; 103(5):727-739. PubMed ID: 30388400
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
    Knowles MR; Leigh MW; Carson JL; Davis SD; Dell SD; Ferkol TW; Olivier KN; Sagel SD; Rosenfeld M; Burns KA; Minnix SL; Armstrong MC; Lori A; Hazucha MJ; Loges NT; Olbrich H; Becker-Heck A; Schmidts M; Werner C; Omran H; Zariwala MA;
    Thorax; 2012 May; 67(5):433-41. PubMed ID: 22184204
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
    Knowles MR; Ostrowski LE; Loges NT; Hurd T; Leigh MW; Huang L; Wolf WE; Carson JL; Hazucha MJ; Yin W; Davis SD; Dell SD; Ferkol TW; Sagel SD; Olivier KN; Jahnke C; Olbrich H; Werner C; Raidt J; Wallmeier J; Pennekamp P; Dougherty GW; Hjeij R; Gee HY; Otto EA; Halbritter J; Chaki M; Diaz KA; Braun DA; Porath JD; Schueler M; Baktai G; Griese M; Turner EH; Lewis AP; Bamshad MJ; Nickerson DA; Hildebrandt F; Shendure J; Omran H; Zariwala MA
    Am J Hum Genet; 2013 Oct; 93(4):711-20. PubMed ID: 24055112
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    Sodeifian F; Samieefar N; Shahkarami S; Rayzan E; Seyedpour S; Rohlfs M; Klein C; Babaie D; Rezaei N
    Case Rep Med; 2023; 2023():8436715. PubMed ID: 37153356
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.