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 *

331 related articles for article (PubMed ID: 30615951)

  • 1. 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]  

  • 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. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.
    Gumus E
    Eur J Med Genet; 2020 Jan; 63(1):103637. PubMed ID: 30858058
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
    Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
    Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. [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]  

  • 10. 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]  

  • 11. 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]  

  • 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. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
    Fregeau B; Kim BJ; Hernández-García A; Jordan VK; Cho MT; Schnur RE; Monaghan KG; Juusola J; Rosenfeld JA; Bhoj E; Zackai EH; Sacharow S; Barañano K; Bosch DGM; de Vries BBA; Lindstrom K; Schroeder A; James P; Kulch P; Lalani SR; van Haelst MM; van Gassen KLI; van Binsbergen E; Barkovich AJ; Scott DA; Sherr EH
    Am J Hum Genet; 2016 May; 98(5):963-970. PubMed ID: 27087320
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16.
    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]  

  • 17. 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]  

  • 18. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Mullegama SV; Rosenfeld JA; Orellana C; van Bon BW; Halbach S; Repnikova EA; Brick L; Li C; Dupuis L; Rosello M; Aradhya S; Stavropoulos DJ; Manickam K; Mitchell E; Hodge JC; Talkowski ME; Gusella JF; Keller K; Zonana J; Schwartz S; Pyatt RE; Waggoner DJ; Shaffer LG; Lin AE; de Vries BB; Mendoza-Londono R; Elsea SH
    Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.