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Topic: Glaucoma, primary infantile type 3A

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	Glaucoma Language Language Pt Pt (Site not responding. Last check: 2007-10-23)
		Glaucoma Drug Primary congenital glaucoma (Q150) or buphthalmos is a rare genetic disease affecting infants.
		Glaucoma Foundation A surgical cyclodialysis is a rarely used procedure that aims to separate the ciliary body from the sclera.
		Awareness of glaucoma, and health beliefs of patients suffering primary acute angle closure -- Saw et al.
	www.glaucoma-area.com /glaucoma-language-language-pt-pt_47.html (1139 words)

	Glaucoma Area (Site not responding. Last check: 2007-10-23)
		Glaucoma is a group of diseases of the optic nerve involving loss of retinal ganglion cells in a characteristic pattern of optic neuropathy.
		Primary congenital glaucoma (Q150) or buphthalmos is a rare genetic disease affecting infants.
		While glaucoma may or may not have distinct symptoms, an almost inevitable complication of glaucoma is vision loss.
	www.glaucoma-area.com (4483 words)

	Partly Mapped Human Disease Genes
		Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
		Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities.
		The progressive myoclonus epilepsy of Lafora type is an autosomal recessive disorder caused by mutations in the EPM2A gene.
	www.mad-cow.org /00/human_inherited.html (5596 words)

	::::::::Welcome to PJO Website ::::::::
		Patients presenting with symptoms of posterior vitreous detachment are usually reviewed after six to eight weeks but since the occurrence of retinal breaks developing during that period is not clear the aim of this prospective study was to determine the frequency of this complication in patients with acute symptomatic posterior vitreous detachment during that period.
		We all understand the complications of primary anterior vitrectomy which includes high cost, technical skills, macular oedema, pupillary distortion, vitreous wick syndrome, possibility of retinal detachment and possible difficulty of secondary implantation of I O L at a later stage.
		This supplement was advised for a period of four months to all types of AMD dry or exudative, CNV occult or classic (Fig 4), and to all AMD locations (Fig.5).
	www.pjo.com.pk /oldissues_jan03.htm (4784 words)

	eMedicine - Primary Lateral Sclerosis : Article by Carmel Armon, MD, MSc, MHS
		Background: Primary lateral sclerosis (PLS) is a progressive, degenerative disease of upper motor neurons characterized by progressive spasticity (ie, stiffness).
		Second-order motor neurons are upper motor neurons whose cell bodies reside primarily in the precentral gyrus or the primary motor cortex of the frontal lobe.
		They send fibers that directly connect to lower motor neurons in the brain stem that innervate the muscles of the face, pharynx, and larynx or to lower motor neurons in the spinal cord that innervate the limb, trunk, and respiratory muscles.
	www.emedicine.com /NEURO/topic324.htm (3960 words)

	Known Alleles (Site not responding. Last check: 2007-10-23)
		Craniofacial-deafness-hand syndrome, 122880 Rhabdomyosarcoma, alveolar, 268220 Waardenburg syndrome, type I Waardenburg syndrome, type III, 148820
		Achondrogenesis-hypochondrogenesis, type II Kniest dysplasia Osteoarthrosis, precocious SED congenita SMED Strudwick type Stickler syndrome, type I Wagner syndrome, type II Cg25C
		Corneal dystrophy, Avellino type Corneal dystrophy, Groenouw type I, 121900 Corneal dystrophy, lattice type I, 122200 Reis-Bucklers corneal dystrophy
	www.sdsc.edu /mpr/homophila/allele.html (600 words)

	pSTIING - Search
		Autoimmune lymphoproliferative syndrome, type IA Autoimmune lymphoproliferative syndrome, type II Autoimmune lymphoproliferative syndrome, type IIB
		Carbohydrate-deficient glycoprotein syndrome, type II Carbohydrate-deficient glycoprotein syndrome, type Ib Carboxypeptidase N deficiency
		Ehlers-Danlos syndrome, type IV Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, type VII
	pstiing.licr.org /search.jsp?script=a_start_disease&... (546 words)

	PUBLICATIONS OF PAUL L (Site not responding. Last check: 2007-10-23)
		Source of the enzyme and factors affecting its concentration in subretinal fluid from primary rhegmatogenous retinal detachments.
		Kaufman PL, Bito LZ: The occurrence of senile cataracts, ocular hypertension, and glaucoma in rhesus monkeys.
		Proceedings of the Symposium of the Glaucoma Society of the International Congress of Ophthalmology in Bali, March 1990.
	www.wisc.edu /kaufmanlab/pkaufman/KaufmanPubs061605.html (7444 words)

	Technique of goniocurettage: a potential treatment for advanced chronic open angle glaucoma -- Jacobi et al. 81 (4): ...
		Tawara A, Inomata H. Developmental immaturity of the trabecular meshwork in juvenile glaucoma.
		Surgical effects of trabeculotomy ab externo on adult eyes with primary open-angle glaucoma and pseudoexfoliation syndrome.
		Role of blockade of the Schlemm's canal in pathogenesis in primary open-angle glaucoma.
	bjo.bmjjournals.com /cgi/content/full/81/4/302 (2925 words)

	Membrane-Associated Heparan Sulfate Proteoglycan Is a Receptor for Adeno-Associated Virus Type 2 Virions -- Summerford ...
		The primary event of any viral infection is attachment of virus to the host cell.
		Galactosyl ceramide or a derivative is an essential component of the neural receptor for human immunodeficiency virus type 1 envelope glycoprotein gp120.
		Efficient infection of cells in culture by type O foot-and-mouth disease virus requires binding to cell surface heparan sulfate.
	jvi.asm.org /cgi/content/full/72/2/1438 (8046 words)

	Identification of Novel Mutations Causing Familial Primary Congenital Glaucoma in Indian Pedigrees -- Panicker et al. ...
		In carriers, in addition to the wild type allele, mutant alleles of 318 and 309 bp were present.
		Heterozygous alleles are denoted by a slash separating wild type in uppercase letters and mutant residues in lowercase letters.
		Genicek, A, Genicekova, A, Ferak, V. (1982) Population genetical aspects of primary congenital glaucoma.
	www.iovs.org /cgi/content/full/43/5/1358 (4071 words)

	GeneCard for CYP1B1 (Site not responding. Last check: 2007-10-23)
		Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
		Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
		Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil.
	bioinfo.cnio.es /cgi-bin/genecards/carddisp?CYP1B1 (762 words)

	[No title]
		Glaucoma 1B- primary open angle- adult onset (2)
		Waardenburg syndrome type I (3); Waardenburg syndrome type III
		Crigler-Najjar syndrome type I 218800 (3); [Gilbert syndrome]
	www.snowcrest.net /starwalker/Chromosomes/genetics/chromo2.htm (300 words)

	Human protein: Q5TZV6 - Cytochrome P450, family 1, subfamily B, polypeptide 1. EMBL Bioinformatics Harvester
		cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
		Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid.
		defects in cyp1b1 are the cause of primary infantile glaucoma 3a (glc3a) [mim:231300]; also known as congenital glaucoma or buphthalmos.
	harvester.embl.de /harvester/Q5TZ/Q5TZV6.htm (871 words)

	ExactAntigen human genes annotated with membrane
		ATP8B1 also called: atpase class i type 8b member 1, phospholipid transporting atpase ic, bric, benign recurrent intrahepatic cholestasis, atpic, atp8b1, pfic1, e1e2 atpase, fic1, pfic, familial intrahepatic cholestasis type 1, progressive familial intrahepatic cholestasis 1 byler disease
		CD36 also called: collagen type i, gpiv, thrombospondin receptor, platelet collagen receptor, platelet glycoprotein iv, fat, leukocyte differentiation antigen cd36, cluster determinant 36, scarb3, pas4, scavenger receptor class b member 3, fatty acid translocase, gp3b, pasiv, cd36, collagen type i receptor, glycoprotein iiib, gp4, cd36 antigen
		GNRHR also called: gonadotropin releasing hormone type 1 receptor 1, type i gnrh receptor, leutinizing releasing hormone receptor, lrhr, lhrhr, grhr, luliberin receptor, gonadotropin releasing hormone receptor, gnrhr, leutinizing hormone releasing horomone receptor, gnrhr1
	gene-ontology.exactantigen.com /component/membrane.html (11521 words)

	[No title]
		'( glycogen metabolism [0005977] )@)C11) NM_000151) NM_000151¸È))ÐÉêyùºÎªK©àÉêyùºÎªK©”http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=2&key=NM_000151)Hs.242)Hs.242¸Â))ÐÉêyùºÎªK©àÉêyùºÎªK©http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=3&key=Hs.242)CGEN_HUM_1000419_1)CGEN_HUM_1000419_1¸Ú))ÐÉêyùºÎªK©àÉêyùºÎªK©¦http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=0&key=CGEN_HUM_1000419_1{)s Homo sapiens glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) (G6PC), mRNA.
		'+ glycogen metabolism [0005977] ,@ ,D2, NM_002711, NM_002711¸È,,ÐÉêyùºÎªK©àÉêyùºÎªK©”http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=2&key=NM_002711, Hs.127614, Hs.127614¸È,,ÐÉêyùºÎªK©àÉêyùºÎªK©”http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=3&key=Hs.127614,CGEN_HUM_1000422_1,CGEN_HUM_1000422_1¸Ú,,ÐÉêyùºÎªK©àÉêyùºÎªK©¦http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=0&key=CGEN_HUM_1000422_1§, Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle) (PPP1R3A), mRNA.
		'6 glycogen catabolism [0005980] 7@ 7E17 NM_0056097 NM_005609¸È77ÐÉêyùºÎªK©àÉêyùºÎªK©”http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=2&key=NM_0056097 Hs.1540847 Hs.154084¸È77ÐÉêyùºÎªK©àÉêyùºÎªK©”http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=3&key=Hs.1540847CGEN_HUM_1000433_17CGEN_HUM_1000433_1¸Ú77ÐÉêyùºÎªK©àÉêyùºÎªK©¦http://www.labonweb.com/cgi-bin/chips/redirector.cgi?site=0&key=CGEN_HUM_1000433_1x7p Homo sapiens phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) (PYGM), mRNA.
	www.labonweb.com /cgi-bin/chips/public_loader.cgi?file=HUM96-2_ps.xls (2338 words)

	[CP1B1_HUMAN] Basic UniProtKB Entry Viewer - UniProt [the Universal Protein Resource]
		Bejjani B.A. Lewis R.A. Tomey K.F. Anderson K.L. Dueker D.K. Jabak M. Astle W.F. Otterud B. Leppert M. Lupski J.R. "Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.";
		Aklillu E. Oscarson M. Hidestrand M. Leidvik B. Otter C. Ingelman-Sundberg M. "Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population.";
		This recessive disease is characterized by large ocular globes resulting from increased intraocular pressure.
	www.ebi.uniprot.org /entry/Q16678 (534 words)

	REFSEQ index (Site not responding. Last check: 2007-10-23)
		cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile) (CYP1B1).
		sodium channel, voltage-gated, type IV, alpha polypeptide (SCN4A).
		proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2) (PSMB9).
	sapiens.wustl.edu /~zkan/TAP/REFSEQ.html (2233 words)

	Medical Dictionary: N - WrongDiagnosis.com
		Need for prophylactic vaccination against Hemophilus influenza, type B [Hib]
		Nephrotic syndrome, early onset with diffuse mesangial sclerosis
		Nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy
	www.wrongdiagnosis.com /lists/dictn_printer.htm (1167 words)

	OMIM Update List for March, 2004
		Clinical Synopsis for 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
		Clinical Synopsis for 108721 ATELOSTEOGENESIS, TYPE III; AOIII
		608088 NEUROPATHY, HEREDITARY SENSORY, TYPE I, WITH COUGH AND GASTROESOPHAGEAL
	www.ncbi.nlm.nih.gov /Omim/dispmonthly.cgi?3.2004 (2183 words)

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