148 related articles for article (PubMed ID: 34970864)
1. A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Sibbin K; Yap P; Nyaga D; Heller R; Evans S; Strachan K; Alburaiky S; Nguyen HMA; Hermann-Le Denmat S; Ganley ARD; O'Sullivan JM; Bloomfield FH
Am J Med Genet A; 2022 Apr; 188(4):1299-1306. PubMed ID: 34970864
[TBL] [Abstract][Full Text] [Related]
2. Identification of a
Nie K; Huang J; Liu L; Lv H; Chen D; Fan W
Front Genet; 2022; 13():828120. PubMed ID: 35401677
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.
Greve JN; Schwäbe FV; Pokrant T; Faix J; Di Donato N; Taft MH; Manstein DJ
Eur J Cell Biol; 2022 Apr; 101(2):151216. PubMed ID: 35313204
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Graziani L; Cinnirella G; Ferradini V; Conte C; Bascio FL; Bengala M; Sangiuolo F; Novelli G
Am J Med Genet A; 2023 Jun; 191(6):1565-1569. PubMed ID: 36810952
[TBL] [Abstract][Full Text] [Related]
7. Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Johnston JJ; Wen KK; Keppler-Noreuil K; McKane M; Maiers JL; Greiner A; Sapp JC; ; Demali KA; Rubenstein PA; Biesecker LG
Hum Mutat; 2013 Sep; 34(9):1242-9. PubMed ID: 23649928
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. New ocular finding in Baraitser-Winter syndrome (BWS).
Rall N; Leon A; Gomez R; Daroca J; Lacassie Y
Eur J Med Genet; 2018 Jan; 61(1):21-23. PubMed ID: 29024830
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S; Stuart HM; Chandler KE; Roberts NA; Armstrong R; Bernardini L; Bhaskar S; Callewaert B; Clayton-Smith J; Davalillo CH; Deshpande C; Devriendt K; Digilio MC; Dixit A; Edwards M; Friedman JM; Gonzalez-Meneses A; Joss S; Kerr B; Lampe AK; Langlois S; Lennon R; Loget P; Ma DYT; McGowan R; Des Medt M; O'Sullivan J; Odent S; Parker MJ; Pebrel-Richard C; Petit F; Stark Z; Stockler-Ipsiroglu S; Tinschert S; Vasudevan P; Villa O; White SM; Zahir FR; ; Woolf AS; Banka S
Am J Hum Genet; 2017 Dec; 101(6):1021-1033. PubMed ID: 29220674
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB; van Bon BW; Hoischen A; Kholmanskikh SS; O'Roak BJ; Gilissen C; Gijsen S; Sullivan CT; Christian SL; Abdul-Rahman OA; Atkin JF; Chassaing N; Drouin-Garraud V; Fry AE; Fryns JP; Gripp KW; Kempers M; Kleefstra T; Mancini GM; Nowaczyk MJ; van Ravenswaaij-Arts CM; Roscioli T; Marble M; Rosenfeld JA; Siu VM; de Vries BB; Shendure J; Verloes A; Veltman JA; Brunner HG; Ross ME; Pilz DT; Dobyns WB
Nat Genet; 2012 Feb; 44(4):440-4, S1-2. PubMed ID: 22366783
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
Digilio MC; Magliozzi M; Di Pede A; Valfrè L; Dentici ML; Auriti C; Marino B; Novelli A; Dallapiccola B
Am J Med Genet A; 2019 Aug; 179(8):1570-1574. PubMed ID: 31111652
[TBL] [Abstract][Full Text] [Related]
20. Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M; Beaver EM; Palomares-Bralo M; Santos-Simarro F; Holzer P; Povysil G; Müller T; Valovka T; Janecke AR
Hum Mutat; 2020 Apr; 41(4):753-758. PubMed ID: 31898838
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
