BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 30921093)

  • 1. Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.
    Aiyar L; Stumbaugh T; Hirata GI; Chen B; Lau HL; Wallerstein RJ
    Clin Dysmorphol; 2019 Jul; 28(3):164-166. PubMed ID: 30921093
    [No Abstract]   [Full Text] [Related]  

  • 2. Baraitser-Winter cerebrofrontofacial syndrome.
    Yates TM; Turner CL; Firth HV; Berg J; Pilz DT
    Clin Genet; 2017 Jul; 92(1):3-9. PubMed ID: 27625340
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.
    Zhang K; Cox E; Strom S; Xu ZL; Disilvestro A; Usrey K
    Am J Med Genet A; 2020 Sep; 182(9):2124-2128. PubMed ID: 32588558
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
    Louie RJ; Friez MJ; Skinner C; Baraitser M; Clark RD; Schwartz CE; Stevenson RE
    Am J Med Genet A; 2020 Mar; 182(3):595-596. PubMed ID: 31814248
    [No Abstract]   [Full Text] [Related]  

  • 5. The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in
    Choi GJ; Kim MS; Park H; Kim JY; Choi JM; Lee SM; Jang JH; Cho SY; Jin DK
    Ann Clin Lab Sci; 2020 Nov; 50(6):818-824. PubMed ID: 33334799
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De Novo
    Dawidziuk M; Kutkowska-Kazmierczak A; Bukowska-Olech E; Jurek M; Kalka E; Guilbride DL; Furmanek MI; Bekiesinska-Figatowska M; Bal J; Gawlinski P
    Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35054877
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
    Bhoj EJ; Haye D; Toutain A; Bonneau D; Nielsen IK; Lund IB; Bogaard P; Leenskjold S; Karaer K; Wild KT; Grand KL; Astiazaran MC; Gonzalez-Nieto LA; Carvalho A; Lehalle D; Amudhavalli SM; Repnikova E; Saunders C; Thiffault I; Saadi I; Li D; Hakonarson H; Vial Y; Zackai E; Callier P; Drunat S; Verloes A
    Eur J Med Genet; 2019 Dec; 62(12):103588. PubMed ID: 30472488
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
    Di Donato N; Kuechler A; Vergano S; Heinritz W; Bodurtha J; Merchant SR; Breningstall G; Ladda R; Sell S; Altmüller J; Bögershausen N; Timms AE; Hackmann K; Schrock E; Collins S; Olds C; Rump A; Dobyns WB
    Am J Med Genet A; 2016 Oct; 170(10):2644-51. PubMed ID: 27240540
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
    Hampshire K; Martin PM; Carlston C; Slavotinek A
    Am J Med Genet A; 2020 Aug; 182(8):1923-1932. PubMed ID: 32506774
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
    Verloes A; Di Donato N; Masliah-Planchon J; Jongmans M; Abdul-Raman OA; Albrecht B; Allanson J; Brunner H; Bertola D; Chassaing N; David A; Devriendt K; Eftekhari P; Drouin-Garraud V; Faravelli F; Faivre L; Giuliano F; Guion Almeida L; Juncos J; Kempers M; Eker HK; Lacombe D; Lin A; Mancini G; Melis D; Lourenço CM; Siu VM; Morin G; Nezarati M; Nowaczyk MJ; Ramer JC; Osimani S; Philip N; Pierpont ME; Procaccio V; Roseli ZS; Rossi M; Rusu C; Sznajer Y; Templin L; Uliana V; Klaus M; Van Bon B; Van Ravenswaaij C; Wainer B; Fry AE; Rump A; Hoischen A; Drunat S; Rivière JB; Dobyns WB; Pilz DT
    Eur J Hum Genet; 2015 Mar; 23(3):292-301. PubMed ID: 25052316
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
    Göbel T; Berninger L; Schlump A; Feige B; Runge K; Nickel K; Schiele MA; van Elst LT; Hotz A; Alter S; Domschke K; Tzschach A; Endres D
    J Neural Transm (Vienna); 2022 Nov; 129(11):1387-1391. PubMed ID: 36205783
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.
    Papamichail M; Manolakos E; Papoulidis I; Siomou E; Eleftheriades A; Marinakis I; Tzanakis K; Sartsidis A; Vlahos NF; Eleftheriades M
    Eur J Med Genet; 2021 Nov; 64(11):104318. PubMed ID: 34450357
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.
    Kemerley A; Sloan C; Pfeifer W; Smith R; Drack A
    Ophthalmic Genet; 2017; 38(2):152-156. PubMed ID: 27096712
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Baraitser-Winter syndrome caused by ACTB gene variation].
    Yu ZN; Huang XW; Hong F; Zhang T; Yang JB
    Zhonghua Er Ke Za Zhi; 2020 Apr; 58(4):333-335. PubMed ID: 32234145
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.
    Kuroda Y; Saito Y; Enomoto Y; Naruto T; Kurosawa K
    Clin Dysmorphol; 2024 Apr; 33(2):75-78. PubMed ID: 38348958
    [No Abstract]   [Full Text] [Related]  

  • 16. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
    Eker HK; Derinkuyu BE; Ünal S; Masliah-Planchon J; Drunat S; Verloes A
    Eur J Med Genet; 2014 Jan; 57(1):32-6. PubMed ID: 24211661
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
    Cianci P; Fazio G; Casagranda S; Spinelli M; Rizzari C; Cazzaniga G; Selicorni A
    Am J Med Genet A; 2017 Feb; 173(2):546-549. PubMed ID: 27868373
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rare ACTG1 variants in fetal microlissencephaly.
    Poirier K; Martinovic J; Laquerrière A; Cavallin M; Fallet-Bianco C; Desguerre I; Valence S; Grande-Goburghun J; Francannet C; Deleuze JF; Boland A; Chelly J; Bahi-Buisson N
    Eur J Med Genet; 2015 Aug; 58(8):416-8. PubMed ID: 26188271
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
    Chacon-Camacho OF; Barragán-Arévalo T; Villarroel CE; Almanza-Monterrubio M; Zenteno JC
    Eur J Med Genet; 2020 May; 63(5):103877. PubMed ID: 32028042
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Niikawa-Kuroki syndrome.
    Roccella M
    Minerva Pediatr; 1999; 51(7-8):271-8. PubMed ID: 10634060
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.