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 *

186 related articles for article (PubMed ID: 35886013)

  • 1. Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the
    Yao Y; Deng S; Zhu F
    Genes (Basel); 2022 Jul; 13(7):. PubMed ID: 35886013
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
    Hayat A; Umair M; Abbas S; Rauf A; Ahmad F; Ullah S; Ahmad W; Khan B
    Genomics; 2020 Jul; 112(4):2729-2733. PubMed ID: 32147526
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of
    Ahmad S; Ali MZ; Muzammal M; Khan AU; Ikram M; Muurinen M; Hussain S; Loid P; Khan MA; Mäkitie O
    Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107627
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
    Ullah I; Kakar N; Schrauwen I; Hussain S; Chakchouk I; Liaqat K; Acharya A; Wasif N; Santos-Cortez RLP; Khan S; Aziz A; Lee K; Couthouis J; Horn D; Kragesteen BK; Spielmann M; Thiele H; Nickerson DA; Bamshad MJ; Gitler AD; Ahmad J; Ansar M; Borck G; Ahmad W; Leal SM
    Hum Genet; 2019 Jun; 138(6):593-600. PubMed ID: 30982135
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
    Umair M; Wasif N; Albalawi AM; Ramzan K; Alfadhel M; Ahmad W; Basit S
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00627. PubMed ID: 31115189
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).
    Umair M; Ahmed Z; Shaker B; Bilal M; Al Abdulrahman A; Khan H; Jawad Khan M; Alfadhel M
    Clin Genet; 2024 Oct; 106(4):488-493. PubMed ID: 38853702
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
    Cheng C; Li X; Zhao S; Feng Q; Ren X; Chen X
    BMC Med Genomics; 2022 Mar; 15(1):55. PubMed ID: 35277174
    [TBL] [Abstract][Full Text] [Related]  

  • 8. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
    Schrauwen I; Giese AP; Aziz A; Lafont DT; Chakchouk I; Santos-Cortez RLP; Lee K; Acharya A; Khan FS; Ullah A; Nickerson DA; Bamshad MJ; Ali G; Riazuddin S; Ansar M; Ahmad W; Ahmed ZM; Leal SM
    J Bone Miner Res; 2019 Feb; 34(2):375-386. PubMed ID: 30395363
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
    Yousaf M; Ullah A; Azeem Z; Isani Majeed A; Memon MI; Ghous T; Basit S; Ahmad W
    Congenit Anom (Kyoto); 2020 Jul; 60(4):115-119. PubMed ID: 31621941
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
    Umair M; Shah K; Alhaddad B; Haack TB; Graf E; Strom TM; Meitinger T; Ahmad W
    Eur J Hum Genet; 2017 Aug; 25(8):960-965. PubMed ID: 28488682
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
    Estrada-Cuzcano A; Etard C; Delvallée C; Stoetzel C; Schaefer E; Scheidecker S; Geoffroy V; Schneider A; Studer F; Mattioli F; Chennen K; Sigaudy S; Plassard D; Poch O; Piton A; Strahle U; Muller J; Dollfus H
    Hum Mutat; 2020 Jan; 41(1):240-254. PubMed ID: 31549751
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of
    Fang Y; Li S; Yu D
    Front Genet; 2023; 14():1075187. PubMed ID: 37007936
    [No Abstract]   [Full Text] [Related]  

  • 13. Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO).
    Fan L; Jin P; Qian Y; Shen G; Shen X; Dong M
    Front Genet; 2022; 13():887082. PubMed ID: 35812756
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Frameshift Variant in
    Bilal M; Ahmad W
    Mol Syndromol; 2021 Mar; 12(1):20-24. PubMed ID: 33776623
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.
    Umair M; Palander O; Bilal M; Almuzzaini B; Alam Q; Ahmad F; Younus M; Khan A; Waqas A; Rafeeq MM; Alfadhel M
    Genomics; 2021 Jul; 113(4):2495-2502. PubMed ID: 34022343
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
    Wang Z; Wang J; Li Y; Geng J; Fu Q; Xu Y; Shen Y
    Clin Chim Acta; 2014 Jun; 433():195-9. PubMed ID: 24667698
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
    Palencia-Campos A; Martínez-Fernández ML; Altunoglu U; Soto-Bielicka P; Torres A; Marín P; Aller E; Şentürk L; Berköz Ö; Yıldıran M; Kayserili H; Gil-Camarero E; Colli-Lista G; Sanchís-Calvo A; Carretero A; ; Guillén-Navarro E; López-González V; Ballesta-Martínez M; Rosell J; Aglan MS; Temtamy S; Otaify GA; Cuevas-Catalina L; Torres-Saavedra MN; Nevado J; Tenorio J; Lapunzina P; Bermejo-Sánchez E; Ruiz-Pérez VL
    Hum Mutat; 2020 Jan; 41(1):265-276. PubMed ID: 31549748
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
    Piceci-Sparascio F; Palencia-Campos A; Soto-Bielicka P; D'Anzi A; Guida V; Rosati J; Caparros-Martin JA; Torrente I; D'Asdia MC; Versacci P; Briuglia S; Lapunzina P; Tartaglia M; Marino B; Digilio MC; Ruiz-Perez VL; De Luca A
    Hum Mutat; 2020 Dec; 41(12):2087-2093. PubMed ID: 32906221
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly.
    Chen X; Yuan L; Xu H; Hu P; Yang Y; Guo Y; Guo Z; Deng H
    Curr Mol Med; 2019; 19(3):228-235. PubMed ID: 30848202
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
    Wang Y; Hao X; Jia X; Ji W; Yuan S; Gnamey EJA; Huang M; Xu L; Zhang X; Bai J; Sun W; Fu S; Liu Y; Wu J
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1968. PubMed ID: 35546307
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.