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 *

84 related articles for article (PubMed ID: 29368331)

  • 1. Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.
    Vernon H; Cohen J; De Nittis P; Fatemi A; McClellan R; Goldstein A; Malerba N; Guex N; Reymond A; Merla G
    Clin Genet; 2018 Jun; 93(6):1254-1256. PubMed ID: 29368331
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
    Mai JH; Ou ZH; Chen L; Duan J; Liao JX; Han CX
    Zhonghua Er Ke Za Zhi; 2020 Oct; 58(10):833-837. PubMed ID: 32987464
    [No Abstract]   [Full Text] [Related]  

  • 3. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
    De Nittis P; Efthymiou S; Sarre A; Guex N; Chrast J; Putoux A; Sultan T; Raza Alvi J; Ur Rahman Z; Zafar F; Rana N; Rahman F; Anwar N; Maqbool S; Zaki MS; Gleeson JG; Murphy D; Galehdari H; Shariati G; Mazaheri N; Sedaghat A; ; Lesca G; Chatron N; Salpietro V; Christoforou M; Houlden H; Simonds WF; Pedrazzini T; Maroofian R; Reymond A
    J Med Genet; 2021 Dec; 58(12):815-831. PubMed ID: 33172956
    [TBL] [Abstract][Full Text] [Related]  

  • 4. IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
    Tang M; Wang Y; Xu Y; Tong W; Jin D; Yang XA
    J Hum Genet; 2020 Jul; 65(7):627-631. PubMed ID: 32203251
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.
    Malerba N; Towner S; Keating K; Squeo GM; Wilson W; Merla G
    Front Genet; 2018; 9():626. PubMed ID: 30631341
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving
    Sciacca FL; Ciaccio C; Fontana F; Strano C; Gilardoni F; Pantaleoni C; D'Arrigo S
    Front Genet; 2020; 11():399. PubMed ID: 32477400
    [TBL] [Abstract][Full Text] [Related]  

  • 7. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
    Lodder EM; De Nittis P; Koopman CD; Wiszniewski W; Moura de Souza CF; Lahrouchi N; Guex N; Napolioni V; Tessadori F; Beekman L; Nannenberg EA; Boualla L; Blom NA; de Graaff W; Kamermans M; Cocciadiferro D; Malerba N; Mandriani B; Akdemir ZHC; Fish RJ; Eldomery MK; Ratbi I; Wilde AAM; de Boer T; Simonds WF; Neerman-Arbez M; Sutton VR; Kok F; Lupski JR; Reymond A; Bezzina CR; Bakkers J; Merla G
    Am J Hum Genet; 2016 Sep; 99(3):704-710. PubMed ID: 27523599
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in
    Shao Z; Masuho I; Tumber A; Maynes JT; Tavares E; Ali A; Hewson S; Schulze A; Kannu P; Martemyanov KA; Vincent A
    Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573334
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The epileptology of GNB5 encephalopathy.
    Poke G; King C; Muir A; de Valles-Ibáñez G; Germano M; Moura de Souza CF; Fung J; Chung B; Fung CW; Mignot C; Ilea A; Keren B; Vermersch AI; Davis S; Stanley T; Moharir M; Kannu P; Shao Z; Malerba N; Merla G; Mefford HC; Scheffer IE; Sadleir LG
    Epilepsia; 2019 Nov; 60(11):e121-e127. PubMed ID: 31631344
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
    Malerba N; Benzoni P; Squeo GM; Milanesi R; Giannetti F; Sadleir LG; Poke G; Augello B; Croce AI; Barbuti A; Merla G
    Stem Cell Res; 2019 Oct; 40():101547. PubMed ID: 31479876
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Intellectual disorder and idiopathic sick sinus syndrome associated with GNB5 mutation: a case report].
    Ou ZH; Mai JH; Liu L; Zeng SY; Li BN; Xu MG; Liu C
    Zhonghua Xin Xue Guan Bing Za Zhi; 2021 Feb; 49(2):185-187. PubMed ID: 33611908
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy.
    Turkdogan D; Usluer S; Akalin F; Agyuz U; Aslan ES
    Seizure; 2017 Aug; 50():171-172. PubMed ID: 28697420
    [No Abstract]   [Full Text] [Related]  

  • 13. The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.
    Zhang J; Pandey M; Awe A; Lue N; Kittock C; Fikse E; Degner K; Staples J; Mokhasi N; Chen W; Yang Y; Adikaram P; Jacob N; Greenfest-Allen E; Thomas R; Bomeny L; Zhang Y; Petros TJ; Wang X; Li Y; Simonds WF
    Am J Hum Genet; 2024 Mar; 111(3):473-486. PubMed ID: 38354736
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.
    Abdulla MC; Alazami AM; Alungal J; Koya JM; Musambil M
    J Genet; 2015 Sep; 94(3):489-92. PubMed ID: 26440089
    [No Abstract]   [Full Text] [Related]  

  • 15. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
    Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
    J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
    Pijuan J; Vilanova-Adell A; Casas-Alba D; Campistol J; Hoenicka J; Palau F
    Clin Genet; 2024 Mar; 105(3):340-342. PubMed ID: 37994112
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
    Neu A; Eiselt M; Paul M; Sauter K; Stallmeyer B; Isbrandt D; Schulze-Bahr E
    Hum Mutat; 2010 Aug; 31(8):E1609-21. PubMed ID: 20564468
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
    Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
    Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
    Blaesius K; Abbasi AA; Tahir TH; Tietze A; Picker-Minh S; Ali G; Farooq S; Hu H; Latif Z; Khan MN; Kaindl A
    Am J Med Genet A; 2018 Nov; 176(11):2517-2521. PubMed ID: 30289604
    [No Abstract]   [Full Text] [Related]  

  • 20. Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
    Nanda A; Pasternack SM; Mahmoudi H; Ishorst N; Grimalt R; Betz RC
    Pediatr Dermatol; 2014; 31(1):83-7. PubMed ID: 24015686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.