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 *

253 related articles for article (PubMed ID: 27103078)

  • 1. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
    Bruel AL; Masurel-Paulet A; Rivière JB; Duffourd Y; Lehalle D; Bensignor C; Huet F; Borgnon J; Roucher F; Kuentz P; Deleuze JF; Thauvin-Robinet C; Faivre L; Thevenon J
    Clin Genet; 2017 Feb; 91(2):333-338. PubMed ID: 27103078
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive
    Rad A; Altunoglu U; Miller R; Maroofian R; James KN; Çağlayan AO; Najafi M; Stanley V; Boustany RM; Yeşil G; Sahebzamani A; Ercan-Sencicek G; Saeidi K; Wu K; Bauer P; Bakey Z; Gleeson JG; Hauser N; Gunel M; Kayserili H; Schmidts M
    J Med Genet; 2019 May; 56(5):332-339. PubMed ID: 30487245
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
    Valenzuela I; Codina M; Fernández-Álvarez P; Mur P; Valle L; Tizzano EF; Cuscó I
    Am J Med Genet A; 2020 Nov; 182(11):2742-2745. PubMed ID: 32896090
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
    Koehler K; Schuelke M; Hell AK; Schittkowski M; Huebner A; Brockmann K
    Am J Med Genet A; 2020 Mar; 182(3):570-575. PubMed ID: 31825161
    [TBL] [Abstract][Full Text] [Related]  

  • 6. External genitalia phenotypes of a Mab21l1-null mouse model for cerebellar, ocular, craniofacial, and genital (COFG) syndrome.
    Promsut W; Yamada R; Takami S; Miyazaki N; Uemura M; Hiramatsu R; Takahashi N; Kanai Y
    Anat Rec (Hoboken); 2024 May; 307(5):1943-1959. PubMed ID: 37750449
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
    Moortgat S; Lederer D; Deprez M; Buzatu M; Clapuyt P; Boulanger S; Benoit V; Mary S; Guichet A; Ziegler A; Colin E; Bonneau D; Maystadt I
    Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
    Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
    Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.
    Manoochehri J; Shiri A; Khoddam S; Aghasipour M; Kamal N; Jafari Khamirani H; Dastgheib SA; Dianatpour M; Tabei SMB
    Eur J Med Genet; 2024 Aug; 70():104953. PubMed ID: 38852771
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
    Kuroda Y; Uehara T; Enomoto Y; Naruto T; Matsumura N; Kurosawa K
    Am J Med Genet A; 2024 Nov; 194(11):e63799. PubMed ID: 38923342
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
    Pons L; Sabatier I; Alix E; Faoucher M; Labalme A; Sanlaville D; Lesca G
    Eur J Med Genet; 2020 Oct; 63(10):103994. PubMed ID: 32707268
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
    Cohen JS; Srivastava S; Farwell Hagman KD; Shinde DN; Huether R; Darcy D; Wallerstein R; Houge G; Berland S; Monaghan KG; Poretti A; Wilson AL; Chung WK; Fatemi A
    Clin Genet; 2017 May; 91(5):697-707. PubMed ID: 27598823
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
    Wang Q; Zhang Y; Li L; Yang N
    Mol Genet Genomic Med; 2024 May; 12(5):e2420. PubMed ID: 38773911
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
    Takenouchi T; Miura K; Uehara T; Mizuno S; Kosaki K
    Am J Med Genet A; 2016 Oct; 170(10):2587-90. PubMed ID: 27256762
    [TBL] [Abstract][Full Text] [Related]  

  • 17. MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.
    Giliberti A; Currò A; Papa FT; Frullanti E; Ariani F; Coriolani G; Grosso S; Renieri A; Mari F
    Eur J Med Genet; 2020 Jan; 63(1):103627. PubMed ID: 30735726
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM; Larsen MJ; Brasch-Andersen C; Krogh LN; Kibæk M; Laulund L; Illum N; Dunkhase-Heinl U; Wiesener A; Popp B; Marangi G; Hjortshøj TD; Ek J; Vogel I; Becher N; Roos L; Zollino M; Fagerberg CR
    Eur J Med Genet; 2019 Feb; 62(2):129-136. PubMed ID: 29959045
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
    Rafiq MA; Leblond CS; Saqib MA; Vincent AK; Ambalavanan A; Khan FS; Ayaz M; Shaheen N; Spiegelman D; Ali G; Amin-ud-Din M; Laurent S; Mahmood H; Christian M; Ali N; Fennell A; Nanjiani Z; Egger G; Caron C; Waqas A; Ayub M; Rasheed S; Forgeot d'Arc B; Johnson A; So J; Brohi MQ; Mottron L; Ansar M; Vincent JB; Xiong L
    BMC Med Genet; 2015 Jun; 16():41. PubMed ID: 26104215
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.