284 related articles for article (PubMed ID: 25052316)
21. 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]
22. 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]
23. [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]
24. 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]
25. 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]
26. 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]
27. Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ; Abu-Ghname A; Raghuram AC; Davis MJ; Guillen DE; Sutton VR; Carvalho CMB; Maricevich RS
Am J Med Genet A; 2021 Dec; 185(12):3606-3612. PubMed ID: 33237614
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC; Ockeloen CW; Czeschik JC; van Essen AJ; Pfundt R; Smeitink J; Poll-The BT; Engels H; Strom TM; Wieczorek D; Kleefstra T; Lüdecke HJ
Hum Genet; 2015 Oct; 134(10):1089-97. PubMed ID: 26264464
[TBL] [Abstract][Full Text] [Related]
30. Child with cerebral malformations and epilepsy.
Sun Y; Shen X; Li Q; Kong Q
Int J Neurosci; 2018 Sep; 128(9):881-885. PubMed ID: 29372643
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Epilepsy in KCNH1-related syndromes.
Mastrangelo M; Scheffer IE; Bramswig NC; Nair LD; Myers CT; Dentici ML; Korenke GC; Schoch K; Campeau PM; White SM; Shashi V; Kansagra S; Van Essen AJ; Leuzzi V
Epileptic Disord; 2016 Jun; 18(2):123-36. PubMed ID: 27267311
[TBL] [Abstract][Full Text] [Related]
33. Baraitser and Winter syndrome with growth hormone deficiency.
Chentli F; Zellagui H
J Pediatr Neurosci; 2014; 9(3):257-9. PubMed ID: 25624931
[TBL] [Abstract][Full Text] [Related]
34. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
35. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané A; Al-Ali R; Choucair N; Lek M; Wang E; Ladjimi M; Rose CM; Hobeika R; Macary Y; Temanni R; Jithesh PV; Chouchane A; Sastry KS; Thomas R; Tomei S; Liu W; Marincola FM; MacArthur D; Chouchane L
BMC Med Genet; 2016 Jun; 17(1):42. PubMed ID: 27282200
[TBL] [Abstract][Full Text] [Related]
36. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.
Zechi-Ceide RM; Guion-Almeida ML; Zanchetta S; Richieri-Costa A
Am J Med Genet A; 2007 Dec; 143A(24):3295-301. PubMed ID: 17907157
[TBL] [Abstract][Full Text] [Related]
37. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Danyel M; Kortüm F; Dathe K; Kutsche K; Horn D
Am J Med Genet A; 2018 Apr; 176(4):992-996. PubMed ID: 29575616
[TBL] [Abstract][Full Text] [Related]
38. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y; Yoshihashi H; Uehara T; Miyama S; Kosaki K; Takenouchi T
Am J Med Genet A; 2021 Mar; 185(3):884-888. PubMed ID: 33369122
[TBL] [Abstract][Full Text] [Related]
39. Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.
Bergmann C; Spranger S; Javaher P; Ptok M
Oral Maxillofac Surg; 2011 Jun; 15(2):103-6. PubMed ID: 20182757
[TBL] [Abstract][Full Text] [Related]
40. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Garavelli L; Zollino M; Mainardi PC; Gurrieri F; Rivieri F; Soli F; Verri R; Albertini E; Favaron E; Zignani M; Orteschi D; Bianchi P; Faravelli F; Forzano F; Seri M; Wischmeijer A; Turchetti D; Pompilii E; Gnoli M; Cocchi G; Mazzanti L; Bergamaschi R; De Brasi D; Sperandeo MP; Mari F; Uliana V; Mostardini R; Cecconi M; Grasso M; Sassi S; Sebastio G; Renieri A; Silengo M; Bernasconi S; Wakamatsu N; Neri G
Am J Med Genet A; 2009 Mar; 149A(3):417-26. PubMed ID: 19215041
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
