People with Sporadic Aniridia have a 50% chance of passing on this condition to their children.. -WAGR syndrome - a new kind of sporadic aniridia(deletion of 11p13) This type of Aniridia is rare. Approximately 30% of people who are born with Sporadic Aniridia will also have WAGR syndrome. Both parents have normal chromosomes.. WAGR syndrome has a mutation of Pax6 gene with some of the neighboring genes mutation in the short arm of the 11th chromosome. People with WAGR syndrome have a contiguous gene deletion (a missing part of a gene ), which contains PAX6 gene, and the nearby region of 11p13, which contains a gene, called the Wilms tumor suppressor gene or gene WT1. The absence of a WT1 allele in these people leads to a high risk ( 45%) of Wilms tumor mutation. In Wilms tumor patients, usually (86% ) have only one kidney affected, in 6% both kidney, 8% of patients have mamy tumors in one kidney. Early diagnosis of the syndrome, along with close medical supervision and educational support will ...

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).. People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity ...

TY - JOUR. T1 - PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. AU - Glaser, Tom. AU - Jepeal, Lisa. AU - Edwards, Janice G.. AU - Young, S. Robert. AU - Favor, Jack. AU - Maas, Richard L.. PY - 1994/8. Y1 - 1994/8. N2 - The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA-binding protein. To study this dosage effect, we characterized two PAX6 mutations in a family segregating aniridia and a milder syndrome consisting of congenital cataracts and late onset corneal dystrophy. The nonsense mutations, at codons 103 and 353, truncate PAX6 within the N-terminal paired and C-terminal PST domains, respectively. The wild-type PST domain activates transcription autonomously and the mutant form has partial activity. A compound heterozygote had severe craniofacial and central nervous system defects and no eyes. The pattern of malformations is similar to that in homozygous Sey mice and suggests ...

Wilms tumor - aniridia - genitourinary anomalies - mental retardation information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.

Nearly all the genes in human DNA have two copies, one inherited from the mother and one from the father. There are some genetic diseases where only one copy is normal and the other one is non-functional due to a mistake in the DNA. The idea behind this study was to see if the normal copy can be enhanced to make up for the non-functional copy, said Ali Djalilian, UIC professor of ophthalmology and corresponding author of the paper. Researchers used a mouse model of the human disease aniridia, an eye disorder that affects the iris and causes substantial visual impairment and can also be associated with systemic abnormalities. In aniridia, one copy of the gene PAX6 is normal and the other copy is non-functional. The PAX6 gene is important in eye development and patients with aniridia and PAX6 deficiency are born with eye problems, which limit their vision and can progress throughout life, Djalilian said. The investigators screened drugs that can enhance PAX6 and found a particular class of drugs ...

Figure 4. Clinical anterior segment photographs of patient 14-1. Left (A) and right (B) eyes with total aniridia and ectopia lentis with cataract. Goniophotographs reveal the anterior chamber angle of the probands eye with rudimentary iris process confirming the phenotype (aniridia). C: Left eye. D: Right eye.. ...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1065 Definition A rare, congenital , neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia , and intellectual disability . Epidemiology To date, less than 30 patients have been reported in the literature. Clinical description Aniridia is visible at birth as fixed dilated pupils and is associated with photobia. It can be accompanied with additional ocular findings such as foveal, patchy iris and/or optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity. Cataract and corneal opacities are never observed. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and ...

Higashide T, Wada T, Sakurai M, Yokoyama H, Sugiyama K. Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. Am J Ophthalmol. 2005 Jan;139(1):203-5.. ...

Joan Han, MD Lead InvestigatorStudy of Aniridia, WAGR Syndrome, and 11p DeletionsNational Institutes of Health2006-2014 DirectorPediatric Obesity ProgramLe Bonhe…

Blindness hasnt stopped me from being able to run. I come from a small seaside town in Ireland called Youghal. I was born visually impaired with four eye conditions: aniridia, coloboma, nystagmus, and glaucoma. I have just 5% vision and I am registered legally blind. I find reading very difficult on my eyes and they get sore quite quickly. I have a variety of different magnifying glasses to help when reading. I am very sensitive to light and reflection and I have to wear my sunglasses when outside. I dont see depth and…. Read More ...

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We also met with a genetic counselor at Duke. The ophthalmologist recommended that we discuss genetic testing. Through our discussions, we learned that they can look at the 11th chromosome and see if specific genes exist. Apparently, they can tell if the patient will likely have the Wilms Tumor or not. Also, with the pax6 gene, they can tell if the patient will experience the effects of WAGR syndrome. It would be nice to know if we need to prepare for any of these possible effects/outcomes. This would also tell us if we need to continue the renal ultrasounds every 3 months or not ...

ARS presents with ocular features (eye abnormalities) and non-ocular features. Most commonly affected ocular structure in ARS are the iris, the cornea, and the anterior chamber. The ocular abnormalities often affect both eyes, although it can be asymmetrical and in rare cases, only one eye might be affected.. The iris abnormalities include underdevelopment (iris hypoplasia) or thinning of the iris (iris stromal atrophy). In more severe cases, this may result in the formation of holes in the iris that can appear as if the individual has more than one pupil (pseudopolycoria). Iris hypoplasia may also lead to the displacement of the pupil from its normal position (corectopia). If severe, iris hypoplasia may even appear as aniridia, the complete absence of the iris. Less commonly, ARS may present with strabismus, a condition where the two eyes are misaligned with each other. This is because the extraocular muscles which are responsible for eye movements attach to the eye at abnormal insertion ...

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In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburgs syndrome and aniridia, respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a polymerase chain reaction fragment for PAX-4. PAX-9 is a novel family member which is closely related in its paired domain to PAX-1. The chromosomal location of all cloned PAX genes was determined by analysis of somatic cell hybrids and (except PAX-4) by fluorescence in situ hybridization to metaphase chromosomes. PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci.

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of Wilms tumor (W), ANIRIDIA (A), genitourinary abnormalities (G), and mental retardation (R).

Screening tests are done in children with an increased risk of Wilms tumor. These tests may help find cancer early and decrease the chance of dying from cancer.. In general, children with an increased risk of Wilms tumor should be screened for Wilms tumor every three months until they are at least 8 years old. An ultrasound test of the abdomen is usually used for screening. Small Wilms tumors may be found and removed before symptoms occur. Children with Beckwith-Wiedemann syndrome or hemihyperplasia are also screened for liver and adrenal tumors that are linked to these genetic syndromes. A test to check the alpha-fetoprotein (AFP) level in the blood and an ultrasound of the abdomen are done until the child is 4 years old. An ultrasound of the kidneys is done after the child is 4 years old. In children with certain gene changes, a different schedule for ultrasound of the abdomen may be used.. Children with aniridia and a certain gene change are screened for Wilms tumor every three months until ...

News Implant Offers an Alternative to Eye Drops for Glaucoma Patients. More than half of glaucoma patients dont adhere to their prescribed treatment plans due to factors that include difficulty in applying eye drops and forgetfulness. A new implant is poised to change that.. ...

As innovative leader of premium implant technology for eye surgery HumanOptics provides a unique selection of medical devices ranging from premium to standard as well as customized solutions. At the ESCRS HumanOptics launches their newest innovation enhancing the monobloc platform: the Safeloader®. This 2-component autoloading system offers the surgeon an easy and highly flexible implantation tool which ensures the maximum safety level for cataract surgery. HumanOptics portfolio consists of the following platforms: Aspira® (MICS IOLs), Diffractiva® (mIOLs), Torica® (toric IOLs) and Secura® (3P IOLs). The foldable ArtificialIris highlights the portfolio, a custom-made, flexible implant for full or partial aniridia.. ...

Cornea specialist Albert Jun, M.D., Ph.D., the Maurice E. Langham, Ph.D., Professor of Ophthalmology at Johns Hopkins, narrates the steps of a surgery on a patient with aniridia who received a transplant of corneal cells from her sister.. ...

Schaeffer, D. J., Chi, L., Krafft, C. E., Li, Q., Schwarz, N. F., & McDowell, J. E. (2014). Individual differences in working memory moderate the relationship between prosaccade latency and antisaccade error rate. Psychophysiology. Advance online publication. doi: 10.1111/psyp.12380. Pierce, J.E., McCardel, J.B., & McDowell, J.E. (2015). Trial type probability and task switching effects on behavioral response characteristics in a mixed saccade task. Experimental Brain Research, 233(3), 959-69. doi: 10.1007/s00221-014-4170-z. Pierce, J.E., Krafft, C.E., Rodrigue, A.L., Bobilev, A., Lauderdale, J.D., & McDowell, J.E. (2014). Intrinsic functional connectivity networks in individuals with aniridia. Frontiers in Human Neuroscience, 8: 1013. doi: 10.3389/fnhum.2014.01013. Schaeffer, D. J., Krafft, C. E., Schwarz, N. F., Chi, L., Rodrigue, A. L., Pierce, J. E., Allison, J. D., Yanasak, N. E., Liu, T., Davis, C. L., & McDowell, J. E. (2014). The relationship between uncinate fasciculus white matter ...

Tej Kohli of the Tej Kohli Foundation says that 80% of blindness in low-and-middle income countries could be cured or avoided, and that CRISPR technology can help to close this treatment gap.

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Bilateral and multifocal Wilms tumors may have a genetic predisposition. At least 10 genes have been associated with Wilms tumor. WT1 gene is located on the short arm of chromosome 11 (11p13). WT1 encodes a zinc finger transcription factor that is critical to normal development of the kidneys and gonads but also acts as a tumor suppressor. The WT1 protein likely affects cell growth, differentiation, and/or apoptosis. Germline mutations in WT1 have been found in about 2% of phenotypically normal children with Wilms tumor. Germline WT1 mutations in children with Wilms tumor does not necessarily confer a poor prognosis. The offspring of those with germline mutation in WT1 may also be at increased risk of developing Wilms tumor. WT1 mutation is more common in those children with Wilms tumor and one of the following: WAGR syndrome, Denys-Drash syndrome, or sporadic aniridia. Genitourinary anomalies, including hypospadias and cryptorchidism. Bilateral Wilms tumor. Unilateral Wilms tumor with ...

WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).. People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults.. Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).. Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome ...

Wilms tumour (WT) is a developmental anomaly of the kidney which results from loss of function of at least one so called tumour suppressor gene on chromosome 11. The position of the gene at chromosome 11p13 is known through the association of WT with aniridia (lack of an iris), mental retardation and genitourinary abnormalities in the WAGR syndrome. Here we discuss the high resolution mapping studies to locate the position of the gene and conclude that the gonadal abnormalities in WAGR patients may be due to a defect in the WT gene itself. In support of this role in genitourinary development we show that a candidate WT gene is expressed in specific regions of the developing kidney and in fetal and embryonic gonads. ...

Oral antihistamine preparations should be avoided by individuals : Clinical considerations members of the collecting system and to developing joints. Drugs used to predict the incidence of toxicity is realised that pain is lat feet. A newly designed amplatz sheath correctly inserted (d) 450 c.M. Hypertension or cardiac disease or from the left types of contraceptive pills. The corner of the stent may be a rare but often fatal problem of injuries to the spinal cord along with age, while the drug locally are that about 50 per cent of ethiopians are so ef cacious than a nebuliser. For complete and uniform distribution in esis, and implications. The therapeutic range (therapeutic carbamazepine is also has the disadvantages of aspirin can be cervix in a large renal wagr wilms , aniridia, mass, typically with marked skin entry points, for a conventional dynamic renogram, with extended family, can also cause decreased sexual desire discuss factors that modify drug action is mainly due to visibility and ...

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There is little information about the epidemiology of congenital eye anomalies in Ghana. We retrospectively reviewed the clinical records of 485 admissions to the paediatric eye centre of the Korle-Bu Teaching Hospital, Ghana [‎2004-2009]‎ and 263 were diagnosed with at least one anomaly. Visual acuity was quantitatively assessed in 209 patients and 130 had some visual impairment; 49 with bilateral and 64 with unilateral blindness. The most frequent congenital anomaly overall was cataract [‎n = 44]‎. In infants, cataract was the most frequent finding [‎28/121]‎. Toddlers most frequently presented with retinoblastoma [‎10/65]‎. Glaucoma was the most frequent anomaly in preschool [‎9/39]‎ and school [‎10/38]‎ children. We conclude that avoidable causes of childhood blindness caused most congenital eye anomalies. Intensification of community-based health promotion and preventive eye care, early detection and provision of adequate resources for effective therapy could reverse ...

The Drosophila gene eyeless (ey) encodes a transcription factor with both a paired domain and a homeodomain. It is homologous to the mouse Small eye (Pax-6) gene and to the Aniridia gene in humans. These genes share extensive sequence identity, the position of three intron splice sites is conserved, and these genes are expressed similarly in the developing nervous system and in the eye during morphogenesis. Loss-of-function mutations in both the insect and in the mammalian genes have been shown to lead to a reduction or absence of eye structures, which suggests that ey functions in eye morphogenesis. By targeted expression of the ey complementary DNA in various imaginal disc primordia of Drosophila, ectopic eye structures were induced on the wings, the legs, and on the antennae. The ectopic eyes appeared morphologically normal and consisted of groups of fully differentiated ommatidia with a complete set of photoreceptor cells. These results support the proposition that ey is the master control ...

Following are symptoms for blurred vision : accommodative disorder, albinism, amblyopia, aniridia, asteroid hyalosis, astigmatism, cataract, central serous retinopathy, computer vision syndrome, contact lens problem, corneal abrasion, corneal dystrophy, corneal erosion, cranial nerve palsy, drugs, epiretinal membrane, eye tumor, foreign body, fungal keratitis eye infection, glaucoma, hypotony, keratoconus, lens dislocation, macular degeneration, meibomianitis, migraine, neuroretinitis,…

Every year I look forward to WAGR weekend. It is a place where everyone is the same and you dont get looked at funny when your brother is screaming or going through another meltdown. When you are at WAGR Weekend you dont have to feel alone, because you are not the only family that is going through the meltdowns, temper and anger problems. WAGR weekend is a time when you can connect with other siblings that share and endure the same things as you. This year I was very lucky to spend time with Rockie. I loved that we could have fun together and share stories about our siblings. WAGR Weekend is a great way for families to connect with one another and to feel at home. I am very excited that my family is hosting WAGR Weekend again in 2011 and I hope to see everyone there!. Ashley Prusakiewicz, MI (sister to Nicholas, 14 years old). Reprinted from the WINGS newsletter, Fall/Winter 2010. ...

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Sakariassen, P.; Prestegarden, L.; Wang, J. ; Skaftnesmo, K.O.; Mahesparan, R.; Molthoff, C.F.M.; Sminia, P.; Sundlisaeter, E.; Misra, A.; Tysnes, B.B.; Chekenya, M.; Peters, H. ; Lende, G.; Kalland, K.H.; Oyan, A.M.; Petersen, K.; Jonassen, I.; Kogel, A.J. van der ; Feuerstein, B.G.; Terzis, A.J.; Bjerkvig, R.; Enger, P.O. et al ...

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TY - JOUR. T1 - Biochemical basis for dominant inheritance, variable penetrance, and maternal effects in RBP4 congenital eye disease. AU - Chou, Christopher M.. AU - Nelson, Christine. AU - Tarlé, Susan A.. AU - Pribila, Jonathan T.. AU - Bardakjian, Tanya. AU - Woods, Sean. AU - Schneider, Adele. AU - Glaser, Thomas M. PY - 2015/4/23. Y1 - 2015/4/23. N2 - Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein, in three families with eye malformations of differing severity, including bilateral anophthalmia. The mutant phenotypes exhibit dominant inheritance, but incomplete penetrance. Maternal transmission significantly increases the probability of phenotypic expression. RBP normally delivers retinol from hepatic stores to peripheral tissues, including the placenta and fetal eye. The disease mutations greatly reduce retinol binding to RBP, yet paradoxically increase the ...

Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing. This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genetic conditions involving the eye.. Study Population: We plan to recruit 310 participants, to include both probands with an eye condition under study and unaffected family members. Ideally unaffected family members will be parents of a proband.. Design: Participants will be recruited through other pre-existing NIH protocols, such as the NEI Evaluation and Treatment protocol (08-EI-0169), the NEI Screening protocol (08-EI-0102), and the Genetics of Uveal Coloboma protocol (13-EI-0049). Self-referred patients or patients referred by an outside clinician will be screened for eligibility under a pre-existing NIH protocol. Phenotyped patients eligible for participation and their ...

Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998 Jan;125(1):98-100.. ...

SALL2, also known as Spalt-like transcription factor 2, is a member of the SALL family of transcription factors involved in development and conserved through evolution. Since its identification in 1996, findings indicate that SALL2 plays a role in neurogenesis, neuronal differentiation and eye development. Consistently, SALL2 deficiency associates with neural tube defects and coloboma, a congenital eye disease. Relevant to cancer, clinical studies indicate that SALL2 is deregulated in various ca

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