BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 27523599)

  • 1. 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]  

  • 2. 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]  

  • 3. [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]  

  • 4. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
    Fleming L; Lemmon M; Beck N; Johnson M; Mu W; Murdock D; Bodurtha J; Hoover-Fong J; Cohn R; Bosemani T; Barañano K; Hamosh A
    Am J Med Genet A; 2016 Jan; 170A(1):77-86. PubMed ID: 26394714
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Unique retinal signaling defect in GNB5-related disease.
    Shao Z; Tumber A; Maynes J; Tavares E; Kannu P; Heon E; Vincent A
    Doc Ophthalmol; 2020 Jun; 140(3):273-277. PubMed ID: 31720979
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
    El-Bazzal L; Atkinson A; Gillart AC; Obeid M; Delague V; Mégarbané A
    Eur J Med Genet; 2019 Apr; 62(4):259-264. PubMed ID: 30075207
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
    Al-Sayed MD; Al-Zaidan H; Albakheet A; Hakami H; Kenana R; Al-Yafee Y; Al-Dosary M; Qari A; Al-Sheddi T; Al-Muheiza M; Al-Qubbaj W; Lakmache Y; Al-Hindi H; Ghaziuddin M; Colak D; Kaya N
    Am J Hum Genet; 2013 Oct; 93(4):721-6. PubMed ID: 24075186
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
    Petrovski S; Küry S; Myers CT; Anyane-Yeboa K; Cogné B; Bialer M; Xia F; Hemati P; Riviello J; Mehaffey M; Besnard T; Becraft E; Wadley A; Politi AR; Colombo S; Zhu X; Ren Z; Andrews I; Dudding-Byth T; Schneider AL; Wallace G; ; Rosen ABI; Schelley S; Enns GM; Corre P; Dalton J; Mercier S; Latypova X; Schmitt S; Guzman E; Moore C; Bier L; Heinzen EL; Karachunski P; Shur N; Grebe T; Basinger A; Nguyen JM; Bézieau S; Wierenga K; Bernstein JA; Scheffer IE; Rosenfeld JA; Mefford HC; Isidor B; Goldstein DB
    Am J Hum Genet; 2016 May; 98(5):1001-1010. PubMed ID: 27108799
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Genetic variation in
    Veerman CC; Mengarelli I; Koopman CD; Wilders R; van Amersfoorth SC; Bakker D; Wolswinkel R; Hababa M; de Boer TP; Guan K; Milnes J; Lodder EM; Bakkers J; Verkerk AO; Bezzina CR
    Dis Model Mech; 2019 Jul; 12(7):. PubMed ID: 31208990
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
    Rodan LH; Cohen J; Fatemi A; Gillis T; Lucente D; Gusella J; Picker JD
    Eur J Hum Genet; 2016 Dec; 24(12):1826-1827. PubMed ID: 27329733
    [TBL] [Abstract][Full Text] [Related]  

  • 15. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
    J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Heterozygous mutations affecting the protein kinase domain of
    Hamilton MJ; Caswell RC; Canham N; Cole T; Firth HV; Foulds N; Heimdal K; Hobson E; Houge G; Joss S; Kumar D; Lampe AK; Maystadt I; McKay V; Metcalfe K; Newbury-Ecob R; Park SM; Robert L; Rustad CF; Wakeling E; Wilkie AOM; Study TDDD; Twigg SRF; Suri M
    J Med Genet; 2018 Jan; 55(1):28-38. PubMed ID: 29021403
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
    Lohmann K; Masuho I; Patil DN; Baumann H; Hebert E; Steinrücke S; Trujillano D; Skamangas NK; Dobricic V; Hüning I; Gillessen-Kaesbach G; Westenberger A; Savic-Pavicevic D; Münchau A; Oprea G; Klein C; Rolfs A; Martemyanov KA
    Hum Mol Genet; 2017 Mar; 26(6):1078-1086. PubMed ID: 28087732
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
    Krall M; Htun S; Schnur RE; Brooks AS; Baker L; de Alba Campomanes A; Lamont RE; Gripp KW; ; Schneidman-Duhovny D; Innes AM; Mancini GMS; Slavotinek AM
    Eur J Hum Genet; 2019 Apr; 27(4):582-593. PubMed ID: 30622326
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
    Armstrong L; Tarailo-Graovac M; Sinclair G; Seath KI; Wasserman WW; Ross CJ; van Karnebeek CD
    Am J Med Genet A; 2017 Mar; 173(3):712-715. PubMed ID: 28211985
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and genetic characterization of individuals with predicted deleterious
    Craddock KE; Okur V; Wilson A; Gerkes EH; Ramsey K; Heeley JM; Juusola J; Vitobello A; Dupeyron MB; Faivre L; Chung WK
    Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31167805
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.