Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

[1]  J. Yokota,et al.  Inactivating mutations in SWI/SNF chromatin remodeling genes in human cancer. , 2013, Japanese journal of clinical oncology.

[2]  Julie C. Sapp,et al.  Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser–Winter Syndrome , 2013, Human mutation.

[3]  A. Rump,et al.  Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations , 2013, European Journal of Human Genetics.

[4]  S. Kapoor,et al.  Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family , 2013, Ophthalmic genetics.

[5]  Jiasheng Wang,et al.  ACTB in cancer. , 2013, Clinica chimica acta; international journal of clinical chemistry.

[6]  J. Gurdon,et al.  Transcriptional regulation and nuclear reprogramming: roles of nuclear actin and actin-binding proteins , 2012, Cellular and Molecular Life Sciences.

[7]  S. Ruggiero,et al.  Case report: Noonan-like multiple central giant cell granuloma syndrome. , 2012, Pediatric dentistry.

[8]  J. Shendure,et al.  De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome , 2012, Nature Genetics.

[9]  Eric S. Lander,et al.  Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing , 2012, Proceedings of the National Academy of Sciences.

[10]  J. Ervasti,et al.  β-Actin specifically controls cell growth, migration, and the G-actin pool , 2011, Molecular biology of the cell.

[11]  H. Mannherz,et al.  Actin: from structural plasticity to functional diversity. , 2011, European journal of cell biology.

[12]  B. Treanor,et al.  Visualizing a role for the actin cytoskeleton in the regulation of B‐cell activation , 2010, Immunological reviews.

[13]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[14]  T. Shiihara,et al.  A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia , 2010, Brain and Development.

[15]  S. Thiem,et al.  Ion-dependent Polymerization Differences between Mammalian β- and γ-Nonmuscle Actin Isoforms* , 2010, The Journal of Biological Chemistry.

[16]  Thomas D. Pollard,et al.  Actin, a Central Player in Cell Shape and Movement , 2009, Science.

[17]  J. Vandekerckhove,et al.  Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models. , 2009, Cell motility and the cytoskeleton.

[18]  R. Goodyear,et al.  In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. , 2009, Human molecular genetics.

[19]  S. Clément,et al.  β- and γ-cytoplasmic actins display distinct distribution and functional diversity , 2009, Journal of Cell Science.

[20]  P. Rubenstein,et al.  Allele-specific Effects of Human Deafness γ-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction* , 2009, The Journal of Biological Chemistry.

[21]  J. Astola,et al.  Systematic bioinformatic analysis of expression levels of 17,330 human genes across 9,783 samples from 175 types of healthy and pathological tissues , 2008, Genome Biology.

[22]  J. Ervasti,et al.  Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy. , 2006, Developmental cell.

[23]  J. Yates,et al.  Arginylation of ß-Actin Regulates Actin Cytoskeleton and Cell Motility , 2006, Science.

[24]  Bulinski Jc.  Cell biology. Actin discrimination. , 2006 .

[25]  M. Gearing,et al.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. , 2006, American journal of human genetics.

[26]  A. Ganesh,et al.  The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. , 2005, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[27]  D. Lloyd,et al.  A novel role for non-muscle γ-actin in skeletal muscle sarcomere assembly , 2004 .

[28]  R. Winter,et al.  Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. , 2003, Neuropediatrics.

[29]  J. Milunsky,et al.  Cerebro–oculo–facial–lymphatic syndrome , 2003, Clinical genetics.

[30]  Jh Edwards.  Sib‐pairs in multifactorial disorders: the sib‐similarity problem , 2003, Clinical genetics.

[31]  M. Gearing,et al.  Aggregation of actin and cofilin in identical twins with juvenile‐onset dystonia , 2002, Annals of neurology.

[32]  M. Guion-Almeida,et al.  Teebi hypertelorism syndrome: Additional cases , 2002, American journal of medical genetics. Part A.

[33]  M. Guion-Almeida,et al.  Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. , 2001, Clinical dysmorphology.

[34]  V. D. Der Kaloustian,et al.  A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. , 2001, Clinical dysmorphology.

[35]  R. Winter.  Editorial comment – Cerebro-fronto-facial syndrome: three types? , 2001 .

[36]  J. Ervasti,et al.  The Dystrophin Complex Forms a Mechanically Strong Link between the Sarcolemma and Costameric Actin , 2000, The Journal of cell biology.

[37]  S. Aftimos,et al.  New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes , 2000, Journal of medical genetics.

[38]  I. Matsuda,et al.  A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[39]  K. Kosik,et al.  Sorting of β-Actin mRNA and Protein to Neurites and Growth Cones in Culture , 1998, The Journal of Neuroscience.

[40]  J. Fryns.  Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. , 1996, American journal of medical genetics.

[41]  R. Winter,et al.  Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. , 1995, American journal of medical genetics.

[42]  P. Gunning,et al.  Beta and gamma actin mRNAs are differentially located within myoblasts , 1993, The Journal of cell biology.

[43]  M. Guion-Almeida,et al.  Acrocallosal syndrome: report of a Brazilian girl. , 1992, American journal of medical genetics.

[44]  R. Pallotta.  Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. , 1991, Journal of medical genetics.

[45]  B. Hall.  Iris coloboma, ptosis, hypertelorism, and mental retardation. , 1989, Journal of medical genetics.

[46]  R. Winter,et al.  Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. , 1988, Journal of medical genetics.

[47]  S. Pruzansky,et al.  Eye findings in the blepharo-naso-facial malformation syndrome. , 1973, American journal of ophthalmology.

[48]  S. Pruzansky,et al.  A family with blepharo-naso-facial malformations. , 1973, American journal of diseases of children.

[49]  A. Verloes,et al.  Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. , 2014, European journal of medical genetics.

[50]  J. Bulinski.  Cell biology. Actin discrimination. , 2006, Science.

[51]  John R Yates,et al.  Arginylation of beta-actin regulates actin cytoskeleton and cell motility. , 2006, Science.

[52]  S. Khaitlina.  Functional specificity of actin isoforms. , 2001, International review of cytology.

[53]  R. Winter.  Cerebro-fronto-facial syndrome: three types? , 2001, Clinical dysmorphology.

[54]  K. Kosik,et al.  Sorting of beta-actin mRNA and protein to neurites and growth cones in culture. , 1998, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[55]  J. Fryns,et al.  Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. , 1992, Genetic counseling.

[56]  R. Ladda,et al.  Syndrome identification #149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome , 1992 .