81. Bernd Wissinger - Ausgewählte Originalarbeiten Translate this page of the cone photoreceptor cGMP gated channel are responsible forAchromatopsia (ACHM3) linked to chromosome 8q21 Human Molecular genetics 9 2107-2116. http://www.achromatopsie.de/leute/bernd_wissinger_publikationen.htm

Achromatopsie Bernd Wissinger Home Neues Achromatopsie e.V. ... die Liste einsehen Diskussionsforen: Diskussions- Forum AchroKids- Forum ... Impressum Mitglied im Suchen Sie Bücher, CDs, DVDs ? Suchen nach: Mit jeder Bestellung unterstützen Sie diese Seite. Sponsor: Bernd Wissinger Lebenslauf Publikationen Stand der Forschung ausgewählte Originalarbeiten Hiesel, R., Wissinger, B., Schuster, W., Brennicke, A. (1989) RNA editing in plant mitochondria. Science 246: 1632-1634. Wissinger, B., Schuster, W., Brennicke, A. (1991) Trans-splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans splicing group II intron sequences. Cell 65: 473-482. Wissinger, B., Schuster, W., Brennicke, A. (1992) Regenerating good sense: RNA editing and trans-splicing in plant mitochondria. Trends Genet 8: 322-328. Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. (1997) Mutation analysis of the ND6 gene in patients with Leber`s hereditary optic neuropathy. Biochem Biophys Res Commun 234: 511-515.

82. Susanne Kohl - Publikationen Translate this page Molecular genetic findings in patients with congenital cone dysfunction. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish http://www.achromatopsie.de/leute/susanne_kohl_publikationen.htm

Achromatopsie Susanne Kohl Home Neues Achromatopsie e.V. ... die Liste einsehen Diskussionsforen: Diskussions- Forum AchroKids- Forum ... Impressum Mitglied im Suchen Sie Bücher, CDs, DVDs ? Suchen nach: Mit jeder Bestellung unterstützen Sie diese Seite. Sponsor: Susanne Kohl Lebenslauf Publikationen Stand der Forschung Publikationen: Originalarbeiten: Jägle H, Kohl S, Apfelstedt-Sylla E, Wissinger B, Sharpe LT. Manifestation of Rod Monochromacy. Col Res Appl. Suppl. 2001; 26:S96-99. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet. 2002; 23:109-20.

83. OMIM Entry 216900 The chromosomal assignment for the achromatopsia locus was given as 2p11.2q12 . at least in this instance, a common genetic basis for phototransduction http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?216900

84. Genome Biology | Full Text | A Second Gene For Color Blindness Total color blindness, or achromatopsia, is a rare inherited disorder whose genomics to isolate a genetic factor in the development of achromatopsia. http://genomebiology.com/2000/1/5/reports/0074

home comment reviews reports ... my journal Enter your e-mail address to receive regular updates from Genome Biology .reports meeting reports paper reports sort by date sort by subject ... Issue 5 Viewing options Abstract Full text Related literature: Other articles by authors Talukder G Tools: E-mail to a friend Download references Post a comment Paper report A second gene for color blindness Analysis of families suffering from total color blindness has revealed one potential cause of the condition - mutations in a gene encoding a subunit of the retinal cone cGMP-gated ion channel. Mutations in the gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ) linked to chromosome 8q21. S Kohl, B Baumann, M Broghammer, H Jagle, P Sieving, U Kellner, R Spegal, M Anastasi, E Zrenner, LT Sharpe and B Wissinger Hum Mol Genet Read the abstract on PubMed Subject areas: Neurobiology, Genetics, Medicine, Physiology, Cell biology Reported by: Gargi Talukder The electronic version of this article is the complete one and can be found online at: http://genomebiology.com/2000/1/5/reports/0074

85. LIST OF PUBLICATIONS Pickford,EW, Pickford,R., Bose,J., Joarder,BS, Nag,PK, Ray,GG and Sen,RN Incompleteachromatopsia in Bishnupur genetics and heterozygote problems http://icmr.nic.in/icmrsql/reportpub.asp?expno=00001402

86. Pingelapese Achromatopsia: Correlation Between Paradoxical Pupillary Response An achromatopsia in Pingelap islanders study of a genetic isolate. Am J Ophthalmol1971;72746–56.Medline; Hussels IE, Morton NE. Pingelap and Mokil atolls http://www.bjophthalmol.com/cgi/content/full/88/2/223

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Download to citation manager PubMed PubMed Citation Articles by Ben Simon, G J Articles by Melamed, S Related Collections Vision Research Other ophthalmology British Journal of Ophthalmology BMJ Publishing Group Ltd SCIENTIFIC REPORT Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features G J Ben Simon F A Abraham and S Melamed The Goldschleger Eye Institute, Sheba Medical Center, Tel-Hashomer, Israel, 52621 Correspondence to: Guy J Ben Simon MD, The Goldshcleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel 52621; Accepted for publication 1 July 2003 ABSTRACT Aim: To evaluate the paradoxical pupillary constriction in darkness in patients with Pingelapese achromatopsia (PA), and to describe

87. Genetic Conditions / Rare Conditions Information Site Information on genetic conditions and birth defects for professionals, educators, Links to lay advocacy and support groups, clinics with genetic http://www.kumc.edu/gec/support/groups.html

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised September 2, 2005 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

88. How Do People Inherit Colorblindness? How Often? For reasons having to do with the genetic coding of color vision, Achromatopsiais a form of colorblindness characterized by the total loss of all color http://webexhibits.org/causesofcolor/2C.html

Related pages: Appearance Types Genetics Testing Classification Incidence (%) Males Females Anomalous Trichromacy Protanomaly (L-cone defect) Deuteranomaly (M-cone defect) Tritanomaly (S-cone defect) Dichromacy Protanopia (L-cone absent) Deuteranopia (M-cone absent) Tritanopia (S-cone absent) Rod Monochromacy (no cones) Most kinds of congenital colorblindness are caused by defects in the X chromosome. Since females have two X chromosomes and males have an X chromosome and a Y chromosome, colorblindness is much more common in males: females must have defects in both chromosomes before they exhibit colorblindness. A female with the colorblindness defect in one X chromosome is a carrier of colorblindness. Male children of a female carrier are as likely to be colorblind as male children of a male with colorblindness, and male children of a male with colorblindness and a female carrier are extremely likely to be colorblind. Approximately 5% to 8% of the men and 0.5% of the women of the world are born colorblind. That's as high as one out of twelve men and one out of two hundred women. People who are protans (red weak) and deutans (green weak) comprise 99% of this group. Molecular genetics The M- and L-cone photopigment genes lie in a head to tail tandem array on the q-arm of the X-chromosome.

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