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 *

138 related articles for article (PubMed ID: 36067927)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
    Bilal M; Khan H; Khan MJ; Haack TB; Buchert R; Liaqat K; Ullah K; Ahmed S; Bharadwaj T; Acharya A; Peralta S; Najumuddin ; Ali H; Hasni MS; Schrauwen I; Ullah A; Ahmad W; Leal SM
    Eur J Hum Genet; 2023 Nov; 31(11):1270-1274. PubMed ID: 37684519
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.
    Ullah A; Umair M; Majeed AI; Abdullah ; Jan A; Ahmad W
    Clin Genet; 2019 Apr; 95(4):540-541. PubMed ID: 30620395
    [No Abstract]   [Full Text] [Related]  

  • 16. Clinical Genetics of Polydactyly: An Updated Review.
    Umair M; Ahmad F; Bilal M; Ahmad W; Alfadhel M
    Front Genet; 2018; 9():447. PubMed ID: 30459804
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
    Kariminejad A; Ghaderi-Sohi S; Keshavarz E; Hashemi SA; Parsimehr E; Szenker-Ravi E; Khatoo M; Faraji Zonooz M; Reversade B; Najmabadi H; Hennekam RC
    Clin Genet; 2020 Jun; 97(6):915-919. PubMed ID: 32112393
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.