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 *

125 related articles for article (PubMed ID: 36157999)

  • 1. Novel frameshift mutation in the
    Lin SZ; Xie HY; Qu YL; Gao W; Wang WQ; Li JY; Feng XC; Jin CQ
    World J Clin Cases; 2022 Jul; 10(21):7517-7522. PubMed ID: 36157999
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
    Faergeman SL; Bojesen AB; Rasmussen M; Becher N; Andreasen L; Andersen BN; Erbs E; Lildballe DL; Nielsen JEK; Zilmer M; Hammer TB; Andersen MØ; Brasch-Andersen C; Fagerberg CR; Illum NO; Thorup MB; Gregersen PA
    Eur J Med Genet; 2021 Sep; 64(9):104280. PubMed ID: 34229113
    [TBL] [Abstract][Full Text] [Related]  

  • 3.
    Bertrand M; Shah G; Pedersen BS; Schulz A; Weise A; Liehr T; Huppke P; DiTroia S; Quinlan AR; Haack TB; Husain RA
    Mol Syndromol; 2024 Oct; 15(5):389-397. PubMed ID: 39359946
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
    Cheng X; Tang F; Hu X; Li H; Li M; Fu Y; Yan L; Li Z; Gou P; Su N; Gong C; He W; Xiang R; Bu D; Shen Y
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00596. PubMed ID: 30729726
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.
    Díaz-Ordoñez L; Ramirez-Montaño D; Candelo E; Cruz S; Pachajoa H
    Iran J Med Sci; 2019 May; 44(3):257-261. PubMed ID: 31182893
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
    Ritter AL; McDougall C; Skraban C; Medne L; Bedoukian EC; Asher SB; Balciuniene J; Campbell CD; Baker SW; Denenberg EH; Mazzola S; Fiordaliso SK; Krantz ID; Kaplan P; Ierardi-Curto L; Santani AB; Zackai EH; Izumi K
    Am J Med Genet A; 2018 Sep; 176(9):1890-1896. PubMed ID: 30152016
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
    Wang Q; Huang X; Liu Y; Peng Q; Zhang Y; Liu J; Yuan H
    Eur J Med Genet; 2020 Jan; 63(1):103611. PubMed ID: 30615951
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Khayat MM; Hu J; Jiang Y; Li H; Chander V; Dawood M; Hansen AW; Li S; Friedman J; Cross L; Bijlsma EK; Ruivenkamp CAL; Sansbury FH; Innis JW; O'Shea JO; Meng Q; Rosenfeld JA; McWalter K; Wangler MF; Lupski JR; Posey JE; Murdock D; Gibbs RA
    HGG Adv; 2021 Oct; 2(4):. PubMed ID: 34950897
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
    Khayat MM; Li H; Chander V; Hu J; Hansen AW; Li S; Traynelis J; Shen H; Weissenberger G; Stossi F; Johnson HL; Lupski JR; Posey JE; Sabo A; Meng Q; Murdock DR; Wangler M; Gibbs RA
    Hum Mutat; 2021 May; 42(5):577-591. PubMed ID: 33644933
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review.
    Della Vecchia S; Milone R; Cagiano R; Calderoni S; Santocchi E; Pasquariello R; Battini R; Muratori F
    Children (Basel); 2021 May; 8(6):. PubMed ID: 34073322
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Xia-Gibbs Syndrome: A Review of Literature.
    Goyal C; Naqvi WM; Sahu A; Aujla AS
    Cureus; 2020 Dec; 12(12):e12352. PubMed ID: 33520547
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-Exome Sequencing Identifies a de novo
    García-Acero M; Acosta J
    Mol Syndromol; 2017 Nov; 8(6):308-312. PubMed ID: 29230160
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
    Chander V; Mahmoud M; Hu J; Dardas Z; Grochowski CM; Dawood M; Khayat MM; Li H; Li S; Jhangiani S; Korchina V; Shen H; Weissenberger G; Meng Q; Gingras MC; Muzny DM; Doddapaneni H; Posey JE; Lupski JR; Sabo A; Murdock DR; Sedlazeck FJ; Gibbs RA
    Hum Mutat; 2022 Dec; 43(12):2033-2053. PubMed ID: 36054313
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel
    Cardoso-Dos-Santos AC; Oliveira Silva T; Silveira Faccini A; Woycinck Kowalski T; Bertoli-Avella A; Morales Saute JA; Schuler-Faccini L; de Oliveira Poswar F
    Mol Syndromol; 2020 Feb; 11(1):24-29. PubMed ID: 32256298
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
    Romano F; Falco M; Cappuccio G; Brunetti-Pierri N; Lonardo F; Torella A; Digilio MC; Dentici ML; Alfieri P; Agolini E; Novelli A; Garavelli L; Accogli A; ; Striano P; Scarano G; Nigro V; Scala M; Capra V
    Birth Defects Res; 2022 Aug; 114(13):759-767. PubMed ID: 35716097
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].
    Fan L; Li Y; Luo H; Shen Y; Yuan M; Yang Z; Gan J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):397-400. PubMed ID: 35446974
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
    Baga M; Ivanovski I; Contrò G; Caraffi SG; Spagnoli C; Cesaroni CA; Neri A; Peluso F; Pollazzon M; Garavelli L; Fusco C
    Mol Syndromol; 2024 Feb; 15(1):63-70. PubMed ID: 38357260
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Atypical aplasia cutis in association with Xia Gibbs syndrome.
    Ellis C; Pai GS; Wine Lee L
    Pediatr Dermatol; 2021 Mar; 38(2):533-535. PubMed ID: 33464633
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
    Danda S; Datar C; Kher A; Deshpande T; Thomas MM; Oommen SP
    Am J Med Genet A; 2022 Aug; 188(8):2501-2504. PubMed ID: 35596688
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.
    Salvati A; Biagioni T; Ferrari AR; Lopergolo D; Brovedani P; Bartolini E
    Seizure; 2022 Jul; 99():127-130. PubMed ID: 35636160
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.