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)

  • 21. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
    Zhu X; Gao Z; Wang Y; Huang W; Li Q; Jiao Z; Liu N; Kong X
    Ultrasound Obstet Gynecol; 2022 Dec; 60(6):780-792. PubMed ID: 35726512
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Functional analysis of a novel splice site variant in the ASAH1 gene.
    Yan S; Fu F; Zhou H; Huang R; Wang Y; Liao C
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2317. PubMed ID: 37962265
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.
    Zhao Q; Li X; Liu L; Zhang X; Pan X; Yao H; Ma Y; Tan B
    BMC Med Genomics; 2022 Sep; 15(1):202. PubMed ID: 36131268
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
    Szalai R; Melegh BI; Till A; Ripszam R; Csabi G; Acharya A; Schrauwen I; Leal SM; Komoly S; Kosztolanyi G; Hadzsiev K
    Exp Mol Pathol; 2020 Aug; 115():104471. PubMed ID: 32446860
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Genetic overview of postaxial polydactyly: Updated classification.
    Ahmad Z; Liaqat R; Palander O; Bilal M; Zeb S; Ahmad F; Jawad Khan M; Umair M
    Clin Genet; 2023 Jan; 103(1):3-15. PubMed ID: 36071556
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
    Elizabeth MSM; Verkerk AJMH; Hokken-Koelega ACS; Verlouw JAM; Argente J; Pfaeffle R; Visser TJ; Peeters RP; De Graaff LCG
    Growth Horm IGF Res; 2020 Feb; 50():35-41. PubMed ID: 31862539
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.
    Chen CP; Chang SY; Chen YN; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2018 Oct; 57(5):739-744. PubMed ID: 30342663
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound.
    Chen CP; Chern SR; Wu PS; Chen SW; Wu FT; Wang W
    Taiwan J Obstet Gynecol; 2021 Jan; 60(1):161-164. PubMed ID: 33494994
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.
    Qian W; Liu X; Wang Z; Xu Y; Zhang J; Li H; Zhong Q; Li C; Zhu L; Zhou Z; Pan W
    J Cell Mol Med; 2022 Jun; 26(11):3213-3222. PubMed ID: 35582950
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
    Zhao Q; Xu B; Xiang Q; Tan Y; Xie H; Gao Q; Wen L; Wang H; Yang M; Liu S
    Mol Genet Genomic Med; 2023 Mar; 11(3):e2124. PubMed ID: 36538006
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.
    Yang Y; Wang M; Wang H
    Mol Genet Genomics; 2022 Jul; 297(4):1017-1026. PubMed ID: 35583673
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
    Umair M; Seidel H; Ahmed I; Ullah A; Haack TB; Alhaddad B; Jan A; Rafique A; Strom TM; Ahmad F; Meitinger T; Ahmad W
    J Genet; 2017 Dec; 96(6):1005-1014. PubMed ID: 29321360
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
    Chen CP; Chern SR; Chang TY; Su YN; Chen YY; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2012 Jun; 51(2):266-70. PubMed ID: 22795106
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Splicing Characterization of
    Wang C; Han Y; Zhou J; Zheng B; Zhou W; Bao H; Jia Z; Zhang A; Huang S; Ding G; Zhao F
    Front Genet; 2020; 11():81. PubMed ID: 32153641
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Characterization of a novel deep-intronic variant in
    Buchh M; Gillespie PJ; Treat K; Abreu MA; Schwantes-An TL; Helm BM; Fang F; Xuei X; Mantcheva L; Suhrie KR; Graham BH; Conboy E; Vetrini F
    Cold Spring Harb Mol Case Stud; 2022 Dec; 8(7):. PubMed ID: 36442996
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Polydactyly, postaxial, type B.
    Holmes LB; Nasri H; Hunt AT; Toufaily MH; Westgate MN
    Birth Defects Res; 2018 Jan; 110(2):134-141. PubMed ID: 29377639
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.