BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 32147526)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.
    Bakar A; Ullah A; Bibi N; Khan H; Rahman AU; Ahmad W; Khan B
    Eur J Med Genet; 2022 Oct; 65(10):104599. PubMed ID: 36067927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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 Jun; ():. PubMed ID: 38853702
    [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. A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly.
    Umair M; Ahmad F; Ahmad S; Alam Q; Rehan M; Alqosaibi AI; Alnamshan MM; Rafeeq MM; Haque S; Sain ZM; Ismail M; Alfadhel M
    Front Genet; 2021; 12():746949. PubMed ID: 34721536
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

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

  • 13. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
    Kalsoom UE; Klopocki E; Wasif N; Tariq M; Khan S; Hecht J; Krawitz P; Mundlos S; Ahmad W
    J Med Genet; 2013 Jan; 50(1):47-53. PubMed ID: 23160277
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
    Ullah A; Ali RH; Majeed AI; Liaqat K; Shah PW; Khan B; Bilal M; Umair M; Ahmad W
    Eur J Med Genet; 2019 Apr; 62(4):278-281. PubMed ID: 30107244
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous mutation in
    Yıldız Bölükbaşı E; Mumtaz S; Afzal M; Woehlbier U; Malik S; Tolun A
    J Med Genet; 2018 Mar; 55(3):189-197. PubMed ID: 29127258
    [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. A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly.
    Turkkahraman D; Sakarya ANP; Randa NC
    Am J Med Genet A; 2021 Jul; 185(7):2234-2237. PubMed ID: 33788986
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.
    Khan F; Arshad A; Majeed AI; Ullah A; Ahmad W
    Eur J Med Genet; 2019 Aug; 62(8):103688. PubMed ID: 31152918
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.