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 *

177 related articles for article (PubMed ID: 35670379)

  • 1. TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
    Musante L; Faletra F; Meier K; Tomoum H; Najarzadeh Torbati P; Blair E; North S; Gärtner J; Diegmann S; Beiraghi Toosi M; Ashrafzadeh F; Ghayoor Karimiani E; Murphy D; Murru FM; Zanus C; Magnolato A; La Bianca M; Feresin A; Girotto G; Gasparini P; Costa P; Carrozzi M
    Am J Med Genet A; 2022 Sep; 188(9):2652-2665. PubMed ID: 35670379
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bi-allelic
    Rasheed A; Gumus E; Zaki M; Johnson K; Manzoor H; LaForce G; Ross D; McEvoy-Venneri J; Stanley V; Lee S; Virani A; Ben-Omran T; Gleeson JG; Naz S; Schaffer A
    J Med Genet; 2021 Apr; 58(4):237-246. PubMed ID: 32439809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
    Nishi E; Takenouchi T; Miya F; Uehara T; Yanagi K; Hasegawa Y; Ueda K; Mizuno S; Kaname T; Kosaki K; Okamoto N
    Am J Med Genet A; 2022 Feb; 188(2):446-453. PubMed ID: 34652060
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
    Miyamoto S; Kato M; Sugiyama K; Horiguchi R; Nakashima M; Aoto K; Mutoh H; Saitsu H
    J Hum Genet; 2021 Dec; 66(12):1189-1192. PubMed ID: 34168248
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
    Cogan G; Bourgon N; Borghese R; Julien E; Jaquette A; Stos B; Achaiaa A; Chuon S; Nitschke P; Fourrage C; Stirnemann J; Boutaud L; Attie-Bitach T
    Mol Genet Genomic Med; 2023 Sep; 11(9):e2219. PubMed ID: 37353886
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
    Banka S; Sayer R; Breen C; Barton S; Pavaine J; Sheppard SE; Bedoukian E; Skraban C; Cuddapah VA; Clayton-Smith J
    Am J Med Genet A; 2019 Jun; 179(6):1058-1062. PubMed ID: 30892814
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
    Basel-Vanagaite L; Yilmaz R; Tang S; Reuter MS; Rahner N; Grange DK; Mortenson M; Koty P; Feenstra H; Farwell Gonzalez KD; Sticht H; Boddaert N; Désir J; Anyane-Yeboa K; Zweier C; Reis A; Kubisch C; Jewett T; Zeng W; Borck G
    Hum Genet; 2014 Jul; 133(7):939-49. PubMed ID: 24615390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A; Piton A; Chancenotte S; Redin C; Thauvin-Robinet C; Henrenger Y; Minot D; Creppy A; Ruffier-Bourdet M; Thevenon J; Kuentz P; Lehalle D; Curie A; Blanchard G; Ghosn E; Bonnet M; Archimbaud-Devilliers M; Huet F; Perret O; Philip N; Mandel JL; Faivre L
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
    Bedeschi MF; Marangi G; Calvello MR; Ricciardi S; Leone FPC; Baccarin M; Guerneri S; Orteschi D; Murdolo M; Lattante S; Frangella S; Keena B; Harr MH; Zackai E; Zollino M
    Eur J Med Genet; 2017 Nov; 60(11):565-571. PubMed ID: 28807867
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
    Ryabets-Lienhard A; Issaranggoon Na Ayuthaya S; Graham JM; Pitukcheewanont P
    Am J Med Genet A; 2018 Aug; 176(8):1768-1772. PubMed ID: 30055029
    [TBL] [Abstract][Full Text] [Related]  

  • 12. DYRK1A mutations in two unrelated patients.
    Ruaud L; Mignot C; Guët A; Ohl C; Nava C; Héron D; Keren B; Depienne C; Benoit V; Maystadt I; Lederer D; Amsallem D; Piard J
    Eur J Med Genet; 2015 Mar; 58(3):168-74. PubMed ID: 25641759
    [TBL] [Abstract][Full Text] [Related]  

  • 13. TTC5 is required to prevent apoptosis of acute myeloid leukemia stem cells.
    Lynch JT; Somerville TD; Spencer GJ; Huang X; Somervaille TC
    Cell Death Dis; 2013 Apr; 4(4):e573. PubMed ID: 23559008
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
    Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
    Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
    Zahra Q; Çakmak Ç; Koprulu M; Shuaib M; Sobreira N; Kalsner L; Sobreira J; Guillen Sacoto MJ; Malik S; Tolun A
    J Hum Genet; 2020 Dec; 65(12):1115-1123. PubMed ID: 32737394
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
    López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
    Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J
    Neurogenetics; 2018 May; 19(2):93-103. PubMed ID: 29511999
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
    Goldsmith H; Wells A; Sá MJN; Williams M; Heussler H; Buckman M; Pfundt R; de Vries BBA; Goel H
    Am J Med Genet A; 2019 Sep; 179(9):1872-1877. PubMed ID: 31207095
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
    Leshinsky-Silver E; Ling J; Wu J; Vinkler C; Yosovich K; Bahar S; Yanoov-Sharav M; Lerman-Sagie T; Lev D
    Neurogenetics; 2017 Jul; 18(3):141-146. PubMed ID: 28620870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.