CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.
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[1] Jean-Philippe Thiran,et al. Human auditory belt areas specialized in sound recognition: a functional magnetic resonance imaging study , 2006, Neuroreport.
[2] Doug J. K. Barrett,et al. Cortical representations of temporal structure in sound. , 2005, Journal of neurophysiology.
[3] Bertrand Delgutte,et al. Neural correlates and mechanisms of spatial release from masking: single-unit and population responses in the inferior colliculus. , 2005, Journal of neurophysiology.
[4] S. Clarke,et al. “WHAT” AND “WHERE” IN HUMAN AUDITION: EVIDENCE FROM ANATOMICAL, ACTIVATION, AND LESION STUDIES , 2005 .
[5] John F Culling,et al. The spatial unmasking of speech: evidence for within-channel processing of interaural time delay. , 2005, The Journal of the Acoustical Society of America.
[6] Olivier A. Coubard,et al. Role of the Posterior Parietal Cortex in the Initiation of Saccades and Vergence: Right/Left Functional Asymmetry , 2005, Annals of the New York Academy of Sciences.
[7] V. Schlageter,et al. Magnetic pill tracking: a novel non‐invasive tool for investigation of human digestive motility , 2005, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.
[8] R. Carlyon. How the brain separates sounds , 2004, Trends in Cognitive Sciences.
[9] Claude Alain,et al. Assessing the auditory dual-pathway model in humans , 2004, NeuroImage.
[10] Ruth Y Litovsky,et al. The benefit of binaural hearing in a cocktail party: effect of location and type of interferer. , 2004, The Journal of the Acoustical Society of America.
[11] S. Clarke,et al. Preserved use of spatial cues for sound segregation in a case of spatial deafness , 2003, Neuropsychologia.
[12] J. Thiran,et al. Unilateral hemispheric lesions disrupt parallel processing within the contralateral intact hemisphere: an auditory fMRI study , 2003, NeuroImage.
[13] Alan R. Palmer,et al. Binaural specialisation in human auditory cortex: an fMRI investigation of interaural correlation sensitivity , 2003, NeuroImage.
[14] S M Scott,et al. Manometric techniques for the evaluation of colonic motor activity: current status , 2003, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.
[15] Jean-Philippe Thiran,et al. Sound recognition and localization in man: specialized cortical networks and effects of acute circumscribed lesions , 2003, Experimental Brain Research.
[16] Neer Asherie,et al. High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract. , 2003, Journal of molecular biology.
[17] S. Laurberg,et al. Colorectal transport in normal defaecation , 2003, Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland.
[18] K. Lampi,et al. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. , 2002, American journal of human genetics.
[19] Jean-Philippe Thiran,et al. What and Where in human audition: selective deficits following focal hemispheric lesions , 2002, Experimental Brain Research.
[20] J. Touchman,et al. Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. , 2002, Molecular vision.
[21] R. Hagger,et al. Periodic colonic motor activity identified by 24‐h pancolonic ambulatory manometry in humans , 2002, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.
[22] M. Frydman,et al. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. , 2002, American journal of human genetics.
[23] P. M. Gopinath,et al. Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts , 2002 .
[24] R. Litovsky,et al. Functional role of the human inferior colliculus in binaural hearing , 2002, Hearing Research.
[25] A. Palmer,et al. Histochemical identification of cortical areas in the auditory region of the human brain , 2002, Experimental Brain Research.
[26] R. Töpper,et al. Role of the Posterior Parietal Cortex in Spatial Hearing , 2002, The Journal of Neuroscience.
[27] F. Pavani,et al. Deficit of auditory space perception in patients with visuospatial neglect , 2001, Neuropsychologia.
[28] R. Carlyon,et al. Auditory Midline and Spatial Discrimination in Patients with Unilateral Neglect , 2001, Cortex.
[29] O. Evgrafov,et al. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract , 2001, Clinical genetics.
[30] S. Bhattacharya,et al. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. , 2001, American journal of human genetics.
[31] C. Grady,et al. “What” and “where” in the human auditory system , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[32] Robert J. Zatorre,et al. Spatial Localization after Excision of Human Auditory Cortex , 2001, The Journal of Neuroscience.
[33] P. Bampton,et al. Prolonged multi-point recording of colonic manometry in the unprepared human colon: providing insight into potentially relevant pressure wave parameters , 2001, American Journal of Gastroenterology.
[34] R Meuli,et al. Two types of auditory neglect. , 2001, Brain : a journal of neurology.
[35] S. S. Rao,et al. Ambulatory 24-h colonic manometry in healthy humans. , 2001, American journal of physiology. Gastrointestinal and liver physiology.
[36] A. Paterson,et al. A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22. , 2001, American journal of human genetics.
[37] J. Rauschecker,et al. Mechanisms and streams for processing of "what" and "where" in auditory cortex. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[38] M. Frydman,et al. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. , 2000, Investigative ophthalmology & visual science.
[39] J. Brynda,et al. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. , 2000, Human molecular genetics.
[40] E. Soffer,et al. Colonic Motor Function in Humans Is Not Affected by Gender , 2000, Digestive Diseases and Sciences.
[41] R. Meuli,et al. Auditory agnosia and auditory spatial deficits following left hemispheric lesions: evidence for distinct processing pathways , 2000, Neuropsychologia.
[42] J. Thiran,et al. Distinct Pathways Involved in Sound Recognition and Localization: A Human fMRI Study , 2000, NeuroImage.
[43] S. Kaushal,et al. Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q , 2000, Nature Genetics.
[44] M. Kaiser-Kupfer,et al. A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract , 2000, Human Genetics.
[45] D. Weeks,et al. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. , 2000, American journal of human genetics.
[46] J. Hess,et al. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. , 2000, American journal of human genetics.
[47] J. King,et al. Molecular basis of a progressive juvenile-onset hereditary cataract. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[48] J. Dent,et al. Relationships between spatial patterns of colonic pressure and individual movements of content. , 2000, American journal of physiology. Gastrointestinal and liver physiology.
[49] Jon H. Kaas,et al. 'What' and 'where' processing in auditory cortex , 1999, Nature Neuroscience.
[50] H. Fuchs,et al. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. , 1999, Genomics.
[51] D. Schorderet,et al. The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer , 1999 .
[52] O. Srivastava,et al. Characterization of a sodium deoxycholate-activatable proteinase activity associated with betaA3/A1-crystallin of human lenses. , 1999, Biochimica et biophysica acta.
[53] H Ogata,et al. Sound lateralisation in patients with left or right cerebral hemispheric lesions: relation with unilateral visuospatial neglect , 1999, Journal of neurology, neurosurgery, and psychiatry.
[54] Stuart Gatehouse,et al. Perceptual segregation of competing speech sounds: the role of spatial location. , 1999, The Journal of the Acoustical Society of America.
[55] S. Bhattacharya,et al. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin , 1999, Human Genetics.
[56] R. W. Hukin,et al. Auditory objects of attention: the role of interaural time differences. , 1999, Journal of experimental psychology. Human perception and performance.
[57] C. Slingsby,et al. Structure of the crystallins , 1999, Eye.
[58] S. Bhattacharya,et al. Connexin46 mutations in autosomal dominant congenital cataract. , 1999, American journal of human genetics.
[59] E. Gillanders,et al. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[60] S. Clarke,et al. Distinct short‐term memory systems for sound content and sound localization , 1998, Neuroreport.
[61] P K Rogan,et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. , 1998, Molecular vision.
[62] P. Kramer,et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. , 1998, Human molecular genetics.
[63] S. Bhattacharya,et al. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. , 1998, American journal of human genetics.
[64] B. Flourié,et al. Tonic and phasic motor activity in the proximal and distal colon of healthy humans. , 1998, American journal of physiology. Gastrointestinal and liver physiology.
[65] B. Zimmerman,et al. Is coffee a colonie stimulant? , 1998 .
[66] C. Darwin. Auditory grouping , 1997, Trends in Cognitive Sciences.
[67] David McAlpine,et al. Detectability Index Measures of Binaural Masking Level Difference Across Populations of Inferior Colliculus Neurons , 1997, The Journal of Neuroscience.
[68] J. Graw. The crystallins: genes, proteins and diseases. , 1997, Biological chemistry.
[69] S. Clarke,et al. Cytochrome Oxidase, Acetylcholinesterase, and NADPH-Diaphorase Staining in Human Supratemporal and Insular Cortex: Evidence for Multiple Auditory Areas , 1997, NeuroImage.
[70] D. McAlpine,et al. Responses of neurons in the inferior colliculus to binaural masking level difference stimuli measured by rate-versus-level functions. , 1997, Journal of neurophysiology.
[71] P. Kramer,et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. , 1997, Human molecular genetics.
[72] W. D. de Jong,et al. The elusive role of the N-terminal extension of beta A3- and beta A1-crystallin. , 1996, Protein engineering.
[73] A. Rees,et al. Evidence for a sound movement area in the human cerebral cortex , 1996, Nature.
[74] Volker Hömberg,et al. Sound localization in egocentric space following hemispheric lesions , 1996, Neuropsychologia.
[75] E. Bisiach,et al. Perceptual and premotor components of unilateral auditory neglect , 1996, Journal of the International Neuropsychological Society.
[76] S F Phillips,et al. Variability of gastrointestinal transit in healthy women and men. , 1996, Gut.
[77] D. McAlpine,et al. Binaural masking level differences in the inferior colliculus of the guinea pig. , 1996, The Journal of the Acoustical Society of America.
[78] Stephanie Clarke,et al. Non-verbal auditory recognition in normal subjects and brain-damaged patients: Evidence for parallel processing , 1996, Neuropsychologia.
[79] M. Kaiser-Kupfer,et al. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. , 1996, American journal of ophthalmology.
[80] Edoardo Bisiach,et al. Challenging current accounts of unilateral neglect , 1994, Neuropsychologia.
[81] J. Hope,et al. Aggregation of beta A3-crystallin is independent of the specific sequence of the domain connecting peptide. , 1994, The Journal of biological chemistry.
[82] H. Bülthoff,et al. Separate neural pathways for the visual analysis of object shape in perception and prehension , 1994, Current Biology.
[83] J. Villemure,et al. Sound localization in hemispherectomized patients , 1994, Neuropsychologia.
[84] D. Lubowski,et al. Oral colon transit scintigraphy using indium-111 DTPA: variability in healthy subjects , 1992, International Journal of Colorectal Disease.
[85] B. Flourié,et al. Right and left colonic transit after eating assessed by a dual isotopic technique in healthy humans. , 1992, Gastroenterology.
[86] R Meddis,et al. The role of interaural time difference and fundamental frequency difference in the identification of concurrent vowel pairs. , 1992, The Journal of the Acoustical Society of America.
[87] M. Warburg,et al. Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity , 1992, Clinical genetics.
[88] L. Jakobson,et al. A kinematic analysis of reaching and grasping movements in a patient recovering from optic ataxia , 1991, Neuropsychologia.
[89] A. R. Palmer,et al. Binaural masking level difference effects in single units of the guinea pig inferior colliculus , 1991, Hearing Research.
[90] Tom L. Blundell,et al. High resolution structure of an oligomeric eye lens β-crystallin , 1991 .
[91] W. Yost. Auditory image perception and analysis: The basis for hearing , 1991, Hearing Research.
[92] K. Saberi,et al. Free-field release from masking. , 1991, The Journal of the Acoustical Society of America.
[93] W. Whitehead,et al. Method for prolonged ambulatory monitoring of high-amplitude propagated contractions from colon. , 1991, The American journal of physiology.
[94] M. Camilleri,et al. Transit of solids through the human colon: regional quantification in the unprepared bowel. , 1990, The American journal of physiology.
[95] J. C. Middlebrooks,et al. Two-dimensional sound localization by human listeners. , 1990, The Journal of the Acoustical Society of America.
[96] D. Wingate,et al. Prolonged ambulant monitoring of human colonic motility. , 1989, The American journal of physiology.
[97] H. Aarts,et al. Crystallin gene expression during rat lens development. , 1989, European journal of biochemistry.
[98] J. Duhamel,et al. Audio-Spatial Deficits in Humans: Differential Effects Associated with Left Versus Right Hemisphere Parietal Damage , 1989, Cortex.
[99] J. Villanueva-Meyer,et al. Association between postprandial changes in colonic intraluminal pressure and transit. , 1989, Gastroenterology.
[100] T. Rosenberg,et al. Autosomal dominant congenital cataract Morphology and genetic mapping , 1989, Acta ophthalmologica.
[101] A. Morelli,et al. Colonic motor response to eating: a manometric investigation in proximal and distal portions of the viscus in man. , 1989, The American journal of gastroenterology.
[102] M. Perenin,et al. Optic ataxia: a specific disruption in visuomotor mechanisms. I. Different aspects of the deficit in reaching for objects. , 1988, Brain : a journal of neurology.
[103] Shirley A. Miller,et al. A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.
[104] R Plomp,et al. The effect of head-induced interaural time and level differences on speech intelligibility in noise. , 1987, The Journal of the Acoustical Society of America.
[105] L. Tsui,et al. Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. , 1986, The Journal of biological chemistry.
[106] Kenneth M. Heilman,et al. Directional hypokinesia , 1985, Neurology.
[107] E. Bisiach,et al. Disorders of perceived auditory lateralization after lesions of the right hemisphere. , 1984, Brain : a journal of neurology.
[108] W. D. de Jong,et al. Proline‐ and alanine‐rich N‐terminal extension of the basic bovine β‐crystallin B1 chains , 1983, FEBS letters.
[109] K. H. Pribram,et al. Auditory spatial deficits in the personal and extrapersonal frames of reference due to cortical lesions , 1981, Neuropsychologia.
[110] J. A. Altman,et al. Effects of unilateral disorder of the brain hemisphere function in man on directional hearing , 1979, Neuropsychologia.
[111] T W Tillman,et al. Perceptual masking in multiple sound backgrounds. , 1969, The Journal of the Acoustical Society of America.
[112] T W Tillman,et al. Release from multiple maskers: effects of interaural time disparities. , 1969, The Journal of the Acoustical Society of America.
[113] I. C. Whitfield,et al. The functional organization of the auditory pathways , 1968 .
[114] T W Tillman,et al. Effects of interaural time delays on masking by two competing signals. , 1968, The Journal of the Acoustical Society of America.
[115] L. Rabiner,et al. Binaural release from masking for speech and gain in intelligibility. , 1967, The Journal of the Acoustical Society of America.
[116] T W Tillman,et al. Release of masking for speech through interaural time delay. , 1967, The Journal of the Acoustical Society of America.
[117] Earl D. Schubert,et al. Some Aspects of Binaural Signal Selection , 1962 .
[118] A. Mills. On the minimum audible angle , 1958 .
[119] L P SANCHEZ-LONGO,et al. Clinical Significance of Impairment of Sound Localization , 1958, Neurology.
[120] Earl D. Schubert,et al. Some Preliminary Experiments on Binaural Time Delay and Intelligibility , 1956 .
[121] J. C. R. Licklider,et al. The Influence of Interaural Phase Relations upon the Masking of Speech by White Noise , 1948 .
[122] P. M. Gopinath,et al. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. , 2002, Journal of medical genetics.
[123] R. Klose,et al. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. , 2000, Investigative ophthalmology & visual science.
[124] M. Owen,et al. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3) , 2000, Human Genetics.
[125] D. Schorderet,et al. The gamma-crystallins and human cataracts: a puzzle made clearer. , 1999, American journal of human genetics.
[126] S. Antonarakis. Recommendations for a nomenclature system for human gene mutations , 1998 .
[127] T. Shearer,et al. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. , 1997, The Journal of biological chemistry.
[128] T. Blundell,et al. High resolution structure of an oligomeric eye lens beta-crystallin. Loops, arches, linkers and interfaces in beta B2 dimer compared to a monomeric gamma-crystallin. , 1991, Journal of molecular biology.
[129] L. Vignolo,et al. Auditory agnosia. , 1982, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.