Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior...

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Transcript of Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior...

Page 1: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 2: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

Rieger's syndrome

Description:A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features of the Axenfeld syndrome with oligodontia. Eye anomalies consist of posterior embryotoxon (an opaque ring at the margin of thecornea), a prominent Schwalbe ring, iris adhesion to the Schwalbe line, hypoplasiaof the anterior stroma of the iris, and occasional glaucoma. Tooth anomalies includeanondontia vera and microdontia.

Page 3: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

The Pituitary Gland

www.med.mun.ca/anatomyts/head/pit.htm

http://www.med.mun.ca/anatomyts/head/pit.htm
Page 4: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 5: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

kirbylab.duhs.duke.edu/resources.htm

Mouse Development

http://kirbylab.duhs.duke.edu/resources.htm
Page 6: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

Gene Gene product Assay

lacZ β-galactosidase Histochemical test

uidA β-glucuronidase Histochemical test

lux Luciferase Bioluminescence

GFP Green fluorescent protein

Fluorescence

Reporter Gene Assay

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=genomes.glossary.9089#9448
Page 7: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

PITX2-LACZ Staining of mouse embryo day 11

PITX2: bicoid-related transcription factor

Page 8: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

Transgenic Mouse (Tg Mouse)

www.beardedman.net/science/genetics/xeno.html

http://www.beardedman.net/science/genetics/xeno.html
Page 9: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 10: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 11: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 12: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 13: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 14: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 15: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

http://www.collaslab.com/article.php?id=18

Chromatin Immunoprecipitation (ChIP) assays are used to evaluate the association of proteins with specific DNA regions.

Page 16: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 17: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.
Page 18: Rieger's syndrome Description: A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features.

The WNT Signaling Pathway

http://atlasgeneticsoncology.org/Deep/WNTSignPathID20042.html


HOW TO COMMUNICATE WITH A SPEECH IMPAIRED … › public › trames_pdf › 2014 › issue_3 › ...malformations. Patau syndrome is most rare of various trisomies, according to Goldstein

HOW TO COMMUNICATE WITH A SPEECH IMPAIRED … › public › trames_pdf › 2014 › issue_3 › ...malformations. Patau syndrome is most rare of various trisomies, according to Goldstein

Trisomy 13- Patau syndrome Mental deficiency; Severe central nervous system malformations; Severe central nervous system malformations;

Trisomy 13- Patau syndrome Mental deficiency; Severe central nervous system malformations; Severe central nervous system malformations;

Assessment of PTEN-associated vascular malformations in a ... · • Bannayan-Riley-Ruvalcaba syndrome • PTEN-related Proteus syndrome • Proteus-like syndrome • High risk for

Assessment of PTEN-associated vascular malformations in a ... · • Bannayan-Riley-Ruvalcaba syndrome • PTEN-related Proteus syndrome • Proteus-like syndrome • High risk for

Depacon (valproate sodium), for intravenous injection · syndrome, headache, infection, insomnia, nausea, ... Fetal Risk. Valproate can cause major congenital malformations, particularly

Depacon (valproate sodium), for intravenous injection · syndrome, headache, infection, insomnia, nausea, ... Fetal Risk. Valproate can cause major congenital malformations, particularly

Congenital bronchopulmonary foregut malformations ... · Unilateral small lung (usually right) - agenesis - hypoplasia - scimitar syndrome - pulmonary artery sling (type II) Focal

Congenital bronchopulmonary foregut malformations ... · Unilateral small lung (usually right) - agenesis - hypoplasia - scimitar syndrome - pulmonary artery sling (type II) Focal

Cardiovascular malformations in DiGeorge syndrome ... · SUMMARY Partial or complete absence ofthe thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated

Cardiovascular malformations in DiGeorge syndrome ... · SUMMARY Partial or complete absence ofthe thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated

Cardiac Malformations

Cardiac Malformations

Bronchopulmonary Malformations

Bronchopulmonary Malformations

Arteriovenous Malformations

Arteriovenous Malformations

Congenital Malformations

Congenital Malformations

Malformations vasculaires - college-chirped.fr · Classification Malformations vasculaires Malformations Flux lent Malformations Flux rapide Malformations capillaires Malformations

Malformations vasculaires - college-chirped.fr · Classification Malformations vasculaires Malformations Flux lent Malformations Flux rapide Malformations capillaires Malformations

Skeletal Malformations

Skeletal Malformations

Syringomyelia and Bone Malformations in the …...Author’s Photo Gallery Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome) 1Department

Syringomyelia and Bone Malformations in the …...Author’s Photo Gallery Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome) 1Department

Ritscher Schinzel Syndrome 3C (Cranio- Cerebello-Cardiac ......Ritscher Schinzel Syndrome - 3C (Crani o-Cerebello-Cardiac) Syndrome: Case Report 45 a. from the cranial malformations:

Ritscher Schinzel Syndrome 3C (Cranio- Cerebello-Cardiac ......Ritscher Schinzel Syndrome - 3C (Crani o-Cerebello-Cardiac) Syndrome: Case Report 45 a. from the cranial malformations:

Rieger's syndrome with pericentric inversion ofchromosome 6 · lished. There are fewanimal models for the disease, though pedigrees ofbasenji dogs have been studied andfoundto havemicrocornea,

Rieger's syndrome with pericentric inversion ofchromosome 6 · lished. There are fewanimal models for the disease, though pedigrees ofbasenji dogs have been studied andfoundto havemicrocornea,

Congenital Malformations Registry (CMR) fox.pdfQ04 Other congenital malformations of the brain Q04.8 Other specified congenital malformations of the brain Arnold-Chiari syndrome, type

Congenital Malformations Registry (CMR) fox.pdfQ04 Other congenital malformations of the brain Q04.8 Other specified congenital malformations of the brain Arnold-Chiari syndrome, type

Risk of bias and confounding of observational studies of ...neurological malformations and disabilities in babies [6–9] and Guillan-Barre´ Syndrome (GBS) and GBS-like syndrome in

Risk of bias and confounding of observational studies of ...neurological malformations and disabilities in babies [6–9] and Guillan-Barre´ Syndrome (GBS) and GBS-like syndrome in

Prevalence and characteristics of brain arteriovenous malformations in hereditary ... · were used: hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu syndrome, AVM, brain AVM,

Prevalence and characteristics of brain arteriovenous malformations in hereditary ... · were used: hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu syndrome, AVM, brain AVM,

Disruption of CXCR4 signaling in pharyngeal neural crest ...dev.biologists.org/content/develop/143/4/582.full.pdf · causes DiGeorge syndrome-like malformations ... signaling on the

Disruption of CXCR4 signaling in pharyngeal neural crest ...dev.biologists.org/content/develop/143/4/582.full.pdf · causes DiGeorge syndrome-like malformations ... signaling on the

PLEASE!FAX TO:!207/899/0968! …!Q87.1!PraderOWili!Syndrome!!!!!Q87.89!Other!Specified!Congenital!Malformation!Syndrome,!Not!Elsewhere!Classified!!!Q89.8!Other!Specified!Congenital!Malformations!!!!!Q96.9!Turner

PLEASE!FAX TO:!207/899/0968! …!Q87.1!PraderOWili!Syndrome!!!!!Q87.89!Other!Specified!Congenital!Malformation!Syndrome,!Not!Elsewhere!Classified!!!Q89.8!Other!Specified!Congenital!Malformations!!!!!Q96.9!Turner