Search Results - "Sundin, Olof H"

The human jejunum has an endogenous microbiota that differs from those in the oral cavity and colon by Sundin, Olof H, Mendoza-Ladd, Antonio, Zeng, Mingtao, Diaz-Arévalo, Diana, Morales, Elisa, Fagan, B Matthew, Ordoñez, Javier, Velez, Philip, Antony, Nishaal, McCallum, Richard W

“…The upper half of the human small intestine, known as the jejunum, is the primary site for absorption of nutrient-derived carbohydrates, amino acids, small…”
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A Common Locus for Late-Onset Fuchs Corneal Dystrophy Maps to 18q21.2-q21.32 by Sundin, Olof H, Broman, Karl W, Chang, Howard H, Vito, Elizabeth C. L, Stark, Walter J, Gottsch, John D

“…To identify the genetic basis of late-onset Fuchs corneal dystrophy (FCD). Phenotypes and genotypes at 1107 short tandem repeat polymorphism markers were…”
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Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein by Sundin, Olof H., Leppert, Gregory S., Silva, Eduardo D., Yang, Jun-Ming, Dharmaraj, Sharola, Maumenee, Irene H., Santos, Luisa Coutinho, Parsa, Cameron F., Traboulsi, Elias I., Broman, Karl W., DiBernardo, Cathy, Sunness, Janet S., Toy, Jeffrey, Weinberg, Ethan M., Nathans, Jeremy

“…Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00…”
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Linkage of Late-Onset Fuchs Corneal Dystrophy to a Novel Locus at 13pTel-13q12.13 by Sundin, Olof H, Jun, Albert S, Broman, Karl W, Liu, Sammy H, Sheehan, Siobhan E, Vito, Elizabeth C. L, Stark, Walter J, Gottsch, John D

“…To identify the gene locus underlying the inheritance of late-onset Fuchs corneal dystrophy (FCD) in a large white kindred. Genotypes of small tandem repeat…”
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Genetic basis of total colourblindness among the Pingelapese islanders by Sundin, Olof H, Yang, Jun-Ming, Li, Yingying, Zhu, Danping, Hurd, Jane N, Mitchell, Thomas N, Silva, Eduardo D, Maumenee, Irene Hussels

“…Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish…”
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Genetics of Fuchs Corneal Dystrophy Comes of Age: Sweet Repeats by Sundin, Olof H

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The Optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes by Toy, J. (Johns Hopkins University School of Medicine, Baltimore, MD.), Yang, J.M, Leppert, G.S, Sundin, O.H

“…Vertebrate eye development begins at the gastrula stage, when a region known as the eye field acquires the capacity to generate retina and lens. Optx2, a…”
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Jejunal Flora of Patients with Small Intestinal Bacterial Overgrowth: DNA Sequencing Provides no Evidence for a Migration of Colonic Microbes by McCallum, Richard W, Mendoza-Ladd, Antonio, Zeng, Mingtao, Diaz-Arévalo, Diana, Morales, Elisa, Fagan, Barry M, Ordonez, Javier, Velez, Philip, Antony, Nishaal, Sundin, Olof H

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Mo1288 The Human Jejunal Microbiome has a Distinctive Bacterial Flora, With Streptococcus tigurinus as its Signature Species, and an Increased Fraction of Gram-Negative Phyla in Patients With Small Intestinal Bacterial Overgrowth by Sundin, Olof H, Ladd, Antonio H. Mendoza, Zeng, Mingtao, Diaz-Arévalo, Diana, Morales, Elisa, Fagan, Barry M, Ordonez, Javier, Velez, Philip, McCallum, Richard W

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Inheritance of a Novel COL8A2 Mutation Defines a Distinct Early-Onset Subtype of Fuchs Corneal Dystrophy by Gottsch, John D, Sundin, Olof H, Liu, Sammy H, Jun, Albert S, Broman, Karl W, Stark, Walter J, Vito, Elizabeth C. L, Narang, Amol K, Thompson, John M, Magovern, Malcolm

“…To characterize the genetic basis and phenotype of inherited Fuchs corneal dystrophy (FCD). DNA from blood was used for genome-wide linkage scans with tandem…”
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Mo1857 Role of PCR Amplification of Jejunal Aspirates in Relation to Culture and Breath Test in the Diagnosis of Small Intestinal Bacterial Overgrowth by Ladd, Antonio Mendoza, Cooper, Chad J, Antony, Nishaal, Sundin, Olof H, Zeng, Mingtao, Diaz-Arevalo, Diana, Morales, Elisa, Fagan, B. Matthew, McCallum, Richard W

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Fuchs Corneal Dystrophy: Aberrant Collagen Distribution in an L450W Mutant of the COL8A2 Gene by Gottsch, John D, Zhang, Cheng, Sundin, Olof H, Bell, W. Robert, Stark, Walter J, Green, W. Richard

“…To characterize histologically Descemet's membrane in an early-onset Fuchs corneal dystrophy (FCD) COL8A2 mutant and compare these findings with corneas from…”
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Novel membrane frizzled‐related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds by Wasmann, Rosemarie A., Wassink‐Ruiter, Jolien S. Klein, Sundin, Olof H., Morales, Elisa, Verheij, Joke B. G. M., Pott, Jan Willem R.

“… Purpose:  We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. Methods:  Ophthalmological…”
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The Mouse's Eye and Mfrp: Not Quite Human by Sundin, Olof H.

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Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization by Sundin, Olof H., Dharmaraj, Sharola, Bhutto, Imran A., Hasegawa, Takuya, McLeod, D. Scott, Merges, Carol A., Silval, Eduardo D., Maumenee, Irene H., Lutty, Gerard A.

“…Background: Nanophthalmos is a genetic disorder characterized by very small, hyperopic eyes that are without gross structural defects. Recessive nanophthalmos…”
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Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation by Zhang, Cheng, Bell, W Robert, Sundin, Olof H, De La Cruz, Zenaida, Stark, Walter J, Green, W Richard, Gottsch, John D

“…A rare, familial early-onset form of Fuchs corneal dystrophy (FCD) is caused by mutation in the COL8A2 gene. This study describes the aberrant pattern of…”
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Analysis and Documentation of Progression of Fuchs Corneal Dystrophy With Retroillumination Photography by Gottsch, John D, Sundin, Olof H, Rencs, Erik V, Emmert, David G, Stark, Walter J, Cheng, Clement J, Schmidt, Gregory W

“…PURPOSE:Fuchs corneal dystrophy (FCD) is a degenerative disorder of the cornea that is characterized by the progressive accumulation of guttae, which are small…”
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Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity by Parsa, C F, Silva, E D, Sundin, O H, Goldberg, M F, De Jong, M R, Sunness, J S, Zeimer, R, Hunter, D G

“…To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common…”
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Expression of the Optx2 homeobox gene during mouse development by Toy, Jeffrey, Sundin, Olof H

“…Optx2, a member of the sine oculis-Six family of homeobox genes, is first expressed in the anterior neural plate of the mouse embryo, and subsequently in the…”
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A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype by Silva, Eduardo, Yang, Jun-Ming, Li, Yingying, Dharmaraj, Sharola, Sundin, Olof H, Maumenee, Irene H

“…To identify and characterize new cone rod homeobox (CRX) mutations associated with the Leber congenital amaurosis phenotype. The human CRX gene was sequenced…”
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