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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

164 related items for PubMed ID: 32627382

  • 1. Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
    Carminho-Rodrigues MT, Steel D, Sousa SB, Brandt G, Guipponi M, Laurent S, Fokstuen S, Moren A, Zacharia A, Dirren E, Oliveira R, Kurian MA, Burkhard PR, Bally JF.
    Am J Med Genet A; 2020 Sep; 182(9):2129-2132. PubMed ID: 32627382
    [Abstract] [Full Text] [Related]

  • 2. Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.
    Yang J, Yu C, Lyn N, Liu L, Li D, Shang Q.
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2281. PubMed ID: 37658636
    [Abstract] [Full Text] [Related]

  • 3. A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
    Tan L, Li Y, Liu F, Huang Y, Luo S, Zhao P, Gu W, Lin J, Zhou A, He X.
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1582. PubMed ID: 33369188
    [Abstract] [Full Text] [Related]

  • 4. A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
    Dos Santos SR, Piergiorge RM, Rocha J, Abdala BB, Gonçalves AP, Pimentel MMG, Santos-Rebouças CB.
    Metab Brain Dis; 2022 Oct; 37(7):2431-2440. PubMed ID: 35829845
    [Abstract] [Full Text] [Related]

  • 5. A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.
    Morales-Rosado JA, Kaiwar C, Smith BE, Klee EW, Dhamija R.
    Am J Med Genet A; 2018 Dec; 176(12):2846-2849. PubMed ID: 30549423
    [Abstract] [Full Text] [Related]

  • 6. Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
    Khamirani HJ, Zoghi S, Namdar ZM, Kamal N, Dianatpour M, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dastgheib SA.
    Ann Hum Genet; 2022 Jan; 86(1):52-62. PubMed ID: 34729769
    [Abstract] [Full Text] [Related]

  • 7.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Nabais Sá MJ, Gabriele M, Testa G, de Vries BBA.
    ; 1993 Jan. PubMed ID: 31145572
    [Abstract] [Full Text] [Related]

  • 8. DNA methylation episignature in Gabriele-de Vries syndrome.
    Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D.
    Genet Med; 2022 Apr; 24(4):905-914. PubMed ID: 35027293
    [Abstract] [Full Text] [Related]

  • 9. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
    Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R.
    Brain; 2024 Apr 04; 147(4):1436-1456. PubMed ID: 37951597
    [Abstract] [Full Text] [Related]

  • 10. 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 04; 65(12):1115-1123. PubMed ID: 32737394
    [Abstract] [Full Text] [Related]

  • 11. First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.
    Koruga N, Pušeljić S, Babić M, Ćuk M, Cvitković Roić A, Vrtarić V, Soldo Koruga A, Rončević A, Tomac V, Rotim T, Turk T, Kretić D, Pušeljić N, Nađ R, Serdarušić I.
    Children (Basel); 2023 Mar 26; 10(4):. PubMed ID: 37189872
    [Abstract] [Full Text] [Related]

  • 12. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
    Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J, Broad Center for Mendelian GenomicsBroad Center for Mendelian Genomics, Cambridge, Massachusetts., DDD studyDDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Balasubramanian M.
    Am J Med Genet A; 2017 Nov 26; 173(11):3003-3012. PubMed ID: 28944577
    [Abstract] [Full Text] [Related]

  • 13. Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia.
    Chawla T, Kumar NK, Goyal V.
    Parkinsonism Relat Disord; 2023 Dec 26; 117():105846. PubMed ID: 37690905
    [No Abstract] [Full Text] [Related]

  • 14. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
    Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S.
    Am J Med Genet A; 2016 Jul 26; 170(7):1791-8. PubMed ID: 27133397
    [Abstract] [Full Text] [Related]

  • 15. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
    Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C.
    Brain; 2020 Dec 01; 143(12):3564-3573. PubMed ID: 33242881
    [Abstract] [Full Text] [Related]

  • 16. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK.
    Am J Med Genet A; 2020 May 01; 182(5):962-973. PubMed ID: 32031333
    [Abstract] [Full Text] [Related]

  • 17. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
    Fritzen D, Kuechler A, Grimmel M, Becker J, Peters S, Sturm M, Hundertmark H, Schmidt A, Kreiß M, Strom TM, Wieczorek D, Haack TB, Beck-Wödl S, Cremer K, Engels H.
    Hum Genet; 2018 May 01; 137(5):401-411. PubMed ID: 29796876
    [Abstract] [Full Text] [Related]

  • 18. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
    Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C.
    J Med Genet; 2020 Feb 01; 57(2):138-144. PubMed ID: 31439720
    [Abstract] [Full Text] [Related]

  • 19. Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
    Phetthong T, Khongkrapan A, Jinawath N, Seo GH, Wattanasirichaigoon D.
    Genes (Basel); 2021 Oct 07; 12(10):. PubMed ID: 34680978
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
    Latchman K, Calder M, Morel D, Rhodes L, Juusola J, Tekin M.
    Am J Med Genet A; 2020 Mar 07; 182(3):548-552. PubMed ID: 31833199
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.