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 *

193 related articles for article (PubMed ID: 26173930)

  • 1. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
    Au PYB; You J; Caluseriu O; Schwartzentruber J; Majewski J; Bernier FP; Ferguson M; ; Valle D; Parboosingh JS; Sobreira N; Innes AM; Kline AD
    Hum Mutat; 2015 Oct; 36(10):1009-1014. PubMed ID: 26173930
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
    Lange L; Pagnamenta AT; Lise S; Clasper S; Stewart H; Akha ES; Quaghebeur G; Knight SJ; Keays DA; Taylor JC; Kini U
    Clin Genet; 2016 Sep; 90(3):258-62. PubMed ID: 26954065
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
    Sobreira N; Schiettecatte F; Valle D; Hamosh A
    Hum Mutat; 2015 Oct; 36(10):928-30. PubMed ID: 26220891
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
    Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
    Au PYB; Goedhart C; Ferguson M; Breckpot J; Devriendt K; Wierenga K; Fanning E; Grange DK; Graham GE; Galarreta C; Jones MC; Kini U; Stewart H; Parboosingh JS; Kline AD; Innes AM;
    Eur J Hum Genet; 2018 Sep; 26(9):1272-1281. PubMed ID: 29904177
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
    van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY
    Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
    Zollino M; Doronzio PN
    J Hum Genet; 2018 Aug; 63(8):859-861. PubMed ID: 29884796
    [No Abstract]   [Full Text] [Related]  

  • 8. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
    Honjo RS; Castro MAA; Ferraciolli SF; Soares Junior LAV; Pastorino AC; Bertola DR; Miyake N; Matsumoto N; Kim CA
    Am J Med Genet A; 2021 May; 185(5):1561-1568. PubMed ID: 33645901
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
    Langley KG; Brown J; Gerber RJ; Fox J; Friez MJ; Lyons M; Schrier Vergano SA
    Am J Med Genet A; 2015 Dec; 167A(12):3180-5. PubMed ID: 26338144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
    Cleaver R; Berg J; Craft E; Foster A; Gibbons RJ; Hobson E; Lachlan K; Naik S; Sampson JR; Sharif S; Smithson S; ; Parker MJ; Tatton-Brown K
    Am J Med Genet A; 2019 Mar; 179(3):344-349. PubMed ID: 30637921
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
    Jansen S; van der Werf IM; Innes AM; Afenjar A; Agrawal PB; Anderson IJ; Atwal PS; van Binsbergen E; van den Boogaard MJ; Castiglia L; Coban-Akdemir ZH; van Dijck A; Doummar D; van Eerde AM; van Essen AJ; van Gassen KL; Guillen Sacoto MJ; van Haelst MM; Iossifov I; Jackson JL; Judd E; Kaiwar C; Keren B; Klee EW; Klein Wassink-Ruiter JS; Meuwissen ME; Monaghan KG; de Munnik SA; Nava C; Ockeloen CW; Pettinato R; Racher H; Rinne T; Romano C; Sanders VR; Schnur RE; Smeets EJ; Stegmann APA; Stray-Pedersen A; Sweetser DA; Terhal PA; Tveten K; VanNoy GE; de Vries PF; Waxler JL; Willing M; Pfundt R; Veltman JA; Kooy RF; Vissers LELM; de Vries BBA
    Eur J Hum Genet; 2019 May; 27(5):738-746. PubMed ID: 30679813
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
    Alazami AM; Al-Owain M; Alzahrani F; Shuaib T; Al-Shamrani H; Al-Falki YH; Al-Qahtani SM; Alsheddi T; Colak D; Alkuraya FS
    Hum Mutat; 2012 Oct; 33(10):1429-34. PubMed ID: 22865833
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
    Sobreira N; Schiettecatte F; Boehm C; Valle D; Hamosh A
    Hum Mutat; 2015 Apr; 36(4):425-31. PubMed ID: 25684268
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
    Zarate YA; Kalsner L; Basinger A; Jones JR; Li C; Szybowska M; Xu ZL; Vergano S; Caffrey AR; Gonzalez CV; Dubbs H; Zackai E; Millan F; Telegrafi A; Baskin B; Person R; Fish JL; Everman DB
    Clin Genet; 2017 Oct; 92(4):423-429. PubMed ID: 28139846
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].
    Chen J; Dai L; Zheng H; Liu G; Zhao Y; Wang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):226-229. PubMed ID: 36709946
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
    Alby C; Boutaud L; Bessières B; Serre V; Rio M; Cormier-Daire V; de Oliveira J; Ichkou A; Mouthon L; Gordon CT; Bonnière M; Mechler C; Nitschke P; Bole C; Lyonnet S; Bahi-Buisson N; Boddaert N; Colleaux L; Roth P; Ville Y; Vekemans M; Encha-Razavi F; Attié-Bitach T; Thomas S
    Am J Med Genet A; 2018 May; 176(5):1091-1098. PubMed ID: 29681083
    [TBL] [Abstract][Full Text] [Related]  

  • 17. HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
    Reichert SC; Li R; A Turner S; van Jaarsveld RH; Massink MPG; van den Boogaard MH; Del Toro M; Rodríguez-Palmero A; Fourcade S; Schlüter A; Planas-Serra L; Pujol A; Iascone M; Maitz S; Loong L; Stewart H; De Franco E; Ellard S; Frank J; Lewandowski R
    Clin Genet; 2020 Jul; 98(1):91-98. PubMed ID: 32335897
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
    Graziano C; Wischmeijer A; Pippucci T; Fusco C; Diquigiovanni C; Nõukas M; Sauk M; Kurg A; Rivieri F; Blau N; Hoffmann GF; Chaubey A; Schwartz CE; Romeo G; Bonora E; Garavelli L; Seri M
    Gene; 2015 Apr; 559(2):144-8. PubMed ID: 25597765
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R
    PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E; Männik K; Dirse V; Utkus A; Ciuladaite Z; Kasnauskiene J; Kurg A; Kučinskas V
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.