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 *

106 related articles for article (PubMed ID: 32573025)

  • 1. Confirming TBC1D32-related ciliopathy in humans.
    Alsahan N; Alkuraya FS
    Am J Med Genet A; 2020 Aug; 182(8):1985-1987. PubMed ID: 32573025
    [No Abstract]   [Full Text] [Related]  

  • 2. TCTN3 mutations cause Mohr-Majewski syndrome.
    Thomas S; Legendre M; Saunier S; Bessières B; Alby C; Bonnière M; Toutain A; Loeuillet L; Szymanska K; Jossic F; Gaillard D; Yacoubi MT; Mougou-Zerelli S; David A; Barthez MA; Ville Y; Bole-Feysot C; Nitschke P; Lyonnet S; Munnich A; Johnson CA; Encha-Razavi F; Cormier-Daire V; Thauvin-Robinet C; Vekemans M; Attié-Bitach T
    Am J Hum Genet; 2012 Aug; 91(2):372-8. PubMed ID: 22883145
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
    Adly N; Alhashem A; Ammari A; Alkuraya FS
    Hum Mutat; 2014 Jan; 35(1):36-40. PubMed ID: 24285566
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
    Harris SC; Chong K; Chitayat D; Gilmore KL; Jorge AAL; Freire BL; Lerario A; Shannon P; Cope H; Gallentine WB; Le Guyader G; Bilan F; Létard P; Davis EE; Vora NL
    Am J Med Genet A; 2023 May; 191(5):1282-1292. PubMed ID: 36826837
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome.
    Li SL; Li KY; Wang YQ
    J Craniofac Surg; 2022 Nov-Dec 01; 33(8):e831-e834. PubMed ID: 36409858
    [TBL] [Abstract][Full Text] [Related]  

  • 6. IFT172 as the 19th gene causative of oral-facial-digital syndrome.
    Yamada M; Uehara T; Suzuki H; Takenouchi T; Fukushima H; Morisada N; Tominaga K; Onoda M; Kosaki K
    Am J Med Genet A; 2019 Dec; 179(12):2510-2513. PubMed ID: 31587445
    [No Abstract]   [Full Text] [Related]  

  • 7. Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type.
    Güven MA; Ceylaner G; Ceylaner S; Uzel M; Coskun A
    Genet Couns; 2009; 20(2):167-72. PubMed ID: 19650414
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Oto-palato-digital syndrome. Report of a case in a female].
    Sirvent Gómez J; Rodríguez Valcárcel G; Alfayate Miguélez S; Pombo Felipe F
    An Esp Pediatr; 1984 Jun; 20(9):905-10. PubMed ID: 6486585
    [No Abstract]   [Full Text] [Related]  

  • 9. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
    Boczek NJ; Hopp K; Benoit L; Kraft D; Cousin MA; Blackburn PR; Madsen CD; Oliver GR; Nair AA; Na J; Bianchi DW; Beek G; Harris PC; Pichurin P; Klee EW
    Eur J Hum Genet; 2018 Dec; 26(12):1797-1809. PubMed ID: 30097616
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
    Dordoni C; Prefumo F; Iascone M; Pinelli L; Palumbo G; Bondioni MP; Savoldi G; Donzelli C; Sartori E; Valente EM; Izzi C
    Prenat Diagn; 2019 Jul; 39(8):652-655. PubMed ID: 31158925
    [No Abstract]   [Full Text] [Related]  

  • 11. Oral facial-digital (OFD) syndrome type I.
    Joshi RM; Sangani BK; Rao CP; Hathi GS
    Indian J Pediatr; 1985; 52(418):555-7. PubMed ID: 4077197
    [No Abstract]   [Full Text] [Related]  

  • 12. Twin fetuses with abnormalities that overlap with three midline malformation complexes.
    Hingorani SR; Pagon RA; Shepard TH; Kapur RP
    Am J Med Genet; 1991 Nov; 41(2):230-5. PubMed ID: 1785640
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
    Shaheen R; Jiang N; Alzahrani F; Ewida N; Al-Sheddi T; Alobeid E; Musaev D; Stanley V; Hashem M; Ibrahim N; Abdulwahab F; Alshenqiti A; Sonmez FM; Saqati N; Alzaidan H; Al-Qattan MM; Al-Mohanna F; Gleeson JG; Alkuraya FS
    Am J Hum Genet; 2019 Apr; 104(4):731-737. PubMed ID: 30905400
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
    Thevenon J; Duplomb L; Phadke S; Eguether T; Saunier A; Avila M; Carmignac V; Bruel AL; St-Onge J; Duffourd Y; Pazour GJ; Franco B; Attie-Bitach T; Masurel-Paulet A; Rivière JB; Cormier-Daire V; Philippe C; Faivre L; Thauvin-Robinet C
    Clin Genet; 2016 Dec; 90(6):509-517. PubMed ID: 27060890
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Orofacial-Digital Syndrome Type IV.
    Mathai SS; Rajeev A; Sahu S
    Indian J Pediatr; 2011 Aug; 78(8):1023-4. PubMed ID: 21424801
    [No Abstract]   [Full Text] [Related]  

  • 16. Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate.
    Figueroa A; Pruzansky S
    Cleft Palate J; 1982 Apr; 19(2):139-44. PubMed ID: 6951660
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The contribution of electromyography to the diagnostics of some rare palatal anomalies.
    Velepic MS; Sasso AB; Ahel VV; Starcevic RA; Komljenovic DB; Velepic MM
    Int J Pediatr Otorhinolaryngol; 2005 Jul; 69(7):953-7. PubMed ID: 15911014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome.
    Kariminejad A; Ghaderi-Sohi S; Kariminejad MH; Lachman R
    Fetal Pediatr Pathol; 2012 Oct; 31(5):295-9. PubMed ID: 22432872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An elusive ciliopathy: Joubert syndrome.
    Canepa C; Burton B; Muhith A
    BMJ Case Rep; 2017 Jun; 2017():. PubMed ID: 28667057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mohr syndrome--symptoms and differential diagnosis].
    Raschke N; Herrmann FH; Herrmann MC
    Zahn Mund Kieferheilkd Zentralbl; 1985; 73(2):155-60. PubMed ID: 3160185
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.