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1. Systems genomics in age-related macular degeneration

Author

Hollander, A.I. den, Mullins, R.F., Orozco, Luz D., Voigt, Andrew P., Chen, Hsu-Hsin, Strunz, Tobias, Klaver, C.C.W., Weber, B.H.F., Gorin, M.B., Hollander, A.I. den, Mullins, R.F., Orozco, Luz D., Voigt, Andrew P., Chen, Hsu-Hsin, Strunz, Tobias, Klaver, C.C.W., Weber, B.H.F., and Gorin, M.B.

Abstract

Contains fulltext : 285289.pdf (Publisher’s version ) (Open Access)

Published
2022

3. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, M., Cornelis, S.S., Pozo-Valero, M.D., Whelan, L., Runhart, E.H., Mishra, K., Bults, F., AlSwaiti, Y., AlTalbishi, A., Baere, E. De, Banfi, S., Banin, E., Bauwens, M., Ben-Yosef, T., Boon, C.J.F., Born, L.I. van den, Defoort, S., Devos, A., Dockery, A., Dudakova, L., Fakin, A., Farrar, G.J., Sallum, J.M.F., Fujinami, K., Gilissen, C., Glavač, D., Gorin, M.B., Greenberg, J., Hayashi, T., Hettinga, Y.M., Hoischen, A., Hoyng, C.B., Hufendiek, K., Jägle, H., Kamakari, S., Karali, M., Kellner, U., Klaver, C.C.W., Kousal, B., Lamey, T.M., MacDonald, I.M., Matynia, A., McLaren, T.L., Mena, M.D., Meunier, I., Miller, R., Newman, H., Ntozini, B., Oldak, M., Pieterse, M., Podhajcer, O.L., Puech, B., Ramesar, R., Rüther, K., Salameh, M., Salles, M.V., Sharon, D., Simonelli, F., Spital, G., Steehouwer, M., Szaflik, J.P., Thompson, J.A., Thuillier, C., Tracewska, A.M., Zweeden, M. van, Vincent, A.L., Zanlonghi, X., Liskova, P., Stöhr, H., Roach, J.N., Ayuso, C., Roberts, L., Weber, B.H.F., Dhaenens, C.M., Cremers, F.P.M., Khan, M., Cornelis, S.S., Pozo-Valero, M.D., Whelan, L., Runhart, E.H., Mishra, K., Bults, F., AlSwaiti, Y., AlTalbishi, A., Baere, E. De, Banfi, S., Banin, E., Bauwens, M., Ben-Yosef, T., Boon, C.J.F., Born, L.I. van den, Defoort, S., Devos, A., Dockery, A., Dudakova, L., Fakin, A., Farrar, G.J., Sallum, J.M.F., Fujinami, K., Gilissen, C., Glavač, D., Gorin, M.B., Greenberg, J., Hayashi, T., Hettinga, Y.M., Hoischen, A., Hoyng, C.B., Hufendiek, K., Jägle, H., Kamakari, S., Karali, M., Kellner, U., Klaver, C.C.W., Kousal, B., Lamey, T.M., MacDonald, I.M., Matynia, A., McLaren, T.L., Mena, M.D., Meunier, I., Miller, R., Newman, H., Ntozini, B., Oldak, M., Pieterse, M., Podhajcer, O.L., Puech, B., Ramesar, R., Rüther, K., Salameh, M., Salles, M.V., Sharon, D., Simonelli, F., Spital, G., Steehouwer, M., Szaflik, J.P., Thompson, J.A., Thuillier, C., Tracewska, A.M., Zweeden, M. van, Vincent, A.L., Zanlonghi, X., Liskova, P., Stöhr, H., Roach, J.N., Ayuso, C., Roberts, L., Weber, B.H.F., Dhaenens, C.M., and Cremers, F.P.M.

Abstract

Contains fulltext : 225504.pdf (Publisher’s version ) (Closed access), PURPOSE: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. METHODS: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. RESULTS: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. CONCLUSION: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases.

Published
2020

6. Macular spatial distribution of preserved autofluorescence in patients with choroideremia

Author

Hariri, A.H., Ip, M.S., Girach, A., Lam, B.L., Fischer, M.D., Sankila, E.M., Pennesi, M.E., Holz, F.G., Maclaren, R.E., Birch, D.G., Hoyng, C.B., MacDonald, I.M., Black, G.C., Tsang, S.H., Bressler, N.M., Stepien, K.E., Larsen, M., Gorin, M.B., Meunier, I., Webster, A.R., Sadda, S., Hariri, A.H., Ip, M.S., Girach, A., Lam, B.L., Fischer, M.D., Sankila, E.M., Pennesi, M.E., Holz, F.G., Maclaren, R.E., Birch, D.G., Hoyng, C.B., MacDonald, I.M., Black, G.C., Tsang, S.H., Bressler, N.M., Stepien, K.E., Larsen, M., Gorin, M.B., Meunier, I., Webster, A.R., and Sadda, S.

Abstract

Item does not contain fulltext, BACKGROUND/AIMS: To better understand the pattern of degeneration progression in cases with choroideremia. METHODS: A cohort of genotypically confirmed choroideremia cases who underwent optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging was studied. Using HEYEX review software, the foveal centre was marked on FAF images under guidance of corresponding OCT images, followed by application of an ETDRS grid. The boundaries of preserved autofluorescence (AF) were manually segmented in each individual ETDRS subfield. The regional distribution of preserved AF was assessed by comparing its area among the various subfields. RESULTS: A total of 168 eyes from 84 choroideremia cases were enrolled. There was a statistically significant difference in the amount of preserved AF area between inner subfields as determined by one-way analysis of variance (F (3,668)=9.997, p<0.001) and also between outer subfields (F (3,668)=8.348, p<0.001). A Tukey posthoc test revealed that the preserved AF area in the nasal subfields in both the inner and outer subfields was significantly smaller compared with analogue subfields. CONCLUSION: The asymmetric spatial distribution of preserved AF in choroideremia (corresponding to the stellate shaped nature of these regions) suggests that the progression of degeneration has directional preference.

Published
2019

7. A new genetic locus for X linked progressive cone-rod dystrophy. (Original Articles)

Author

Jalkanen, R., Demirci, F.Y., Tyynismaa, H., Bech-Hansen, T., Meindl, A., Peippo, M., Mantyjarvi, M., Gorin, M.B., and Alitalo, T.

Subjects
Retinal diseases -- Genetic aspects, X chromosome -- Abnormalities -- Genetic aspects, Cones (Photoreceptors) -- Abnormalities -- Genetic aspects, Health, Genetic aspects, Abnormalities
Abstract

X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD 1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have [...]

Published
2003

8. Central nervous system involvement in Von Hippel-Lindau disease

Author

Filling-Katz, M.R., Choyke, P.L., Oldfield, E., Charnas, L., Patronas, N.J., Glenn, G.M., Gorin, M.B., Morgan, J.K., Linehan, W.M., Seizinger, B.R., and Zbar, B.

Subjects
Brain diseases, Arteriovenous malformations, Health, Psychology and mental health
Abstract

Von Hippel-Lindau disease (HLD) is generally grouped with neurofibromatosis, tuberous sclerosis, and the other so-called phakomatoses. The disorder is inherited as a dominant trait, and although HLD is much rarer than neurofibromatosis, it shares with neurofibromatosis a high frequency of new mutations. HLD results in the development of tumorous growths of blood vessels, most notably in the retina, but also in the brain and spinal cord, adrenal glands, lungs and liver. Other tumors may also develop. In contrast to neurofibromatosis, HLD does not usually appear until the patient is at least 25 years old. In order to determine the frequency of blood vessel abnormalities in patients with HLD, 50 patients were examined using gadolinium-enhanced magnetic resonance imaging. Thirty-six patients (72 percent) had hemangioblastomas in the central nervous system (hemangioblastomas are tumorous proliferations of the blood vessel cells in the capillaries). Outside of the retina, the most common site of hemangioblastomas was the cerebellum, which was affected in 52 percent of the patients, followed closely by the spinal cord, which was affected in 44 percent. The brainstem was affected in 18 percent of the patients. Fortunately, the hemangioblastomas did not cause neurologic symptoms in the majority of cases. In the present study, the average age of the patients with the central nervous system hemangioblastomas was about the same as those without, suggesting that the CNS lesions develop along with the other symptoms of the disease. The authors suggest that magnetic resonance screening of individuals known to be at risk for von Hippel-Lindau disease should begin in childhood, after age 10. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

9. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia

Author

Hariri, A.H., Velaga, S.B., Girach, A., Ip, M.S., Le, P.V., Lam, B.L., Fischer, M.D., Sankila, E.M., Pennesi, M.E., Holz, F.G., Maclaren, R.E., Birch, D.G., Hoyng, C.B., MacDonald, I.M., Black, G.C., Tsang, S.H., Bressler, N.M., Larsen, M., Gorin, M.B., Webster, A.R., Sadda, S.R., Hariri, A.H., Velaga, S.B., Girach, A., Ip, M.S., Le, P.V., Lam, B.L., Fischer, M.D., Sankila, E.M., Pennesi, M.E., Holz, F.G., Maclaren, R.E., Birch, D.G., Hoyng, C.B., MacDonald, I.M., Black, G.C., Tsang, S.H., Bressler, N.M., Larsen, M., Gorin, M.B., Webster, A.R., and Sadda, S.R.

Abstract

Item does not contain fulltext, PURPOSE: To identify valid and reproducible methods for quantifying anatomic outcome measures for eyes with choroideremia (CHM) in clinical trials. DESIGN: Reliability analysis study. METHODS: In this multicenter study, patients with confirmed genetic diagnosis of CHM were enrolled. All cases underwent spectral-domain optical coherence tomography (SDOCT) and fundus autofluorescence (FAF) imaging. Two graders independently delineated boundaries of preserved autofluorescence (PAF) and preserved ellipsoid zone (EZ) on FAF and OCT images, respectively. The results of the 2 independent gradings of both FAF and OCT images were compared to assess the reproducibility of the grading methods. RESULTS: A total of 148 eyes from 75 cases were included. In 21% of eyes PAF and in 43% of eyes preserved EZ had extended beyond the image capture area. After exclusion of these eyes and low-quality images, 114 FAF and 77 OCT images were graded. The mean PAF areas from 2 independent gradings were 3.720 +/- 3.340 mm2 and 3.692 +/- 3.253 mm2, respectively. Intraclass correlation coefficient (ICC) for these gradings was 0.996. The mean preserved EZ areas from 2 independent gradings were 2.746 +/- 2.319 mm2 and 2.858 +/- 2.446 mm2, respectively. ICC for these gradings was 0.991. CONCLUSIONS: Quantifying preserved retinal pigment epithelium and EZ areas on FAF and OCT images, respectively, in CHM patients is highly reproducible. These variables would be potential anatomic outcome measures for CHM clinical trials and could be studied and tracked longitudinally in choroideremia.

Published
2017

10. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), Li, M. (Mingyao), Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), and Li, M. (Mingyao)

Abstract

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10 -8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10 -10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

Published
2016
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16. No impact of high-dose cytarabine on the outcome of patients transplanted for acute myeloblastic leukaemia in first remission

Author

Cahn, J., Labopin, M., Sierra, J., Baise, D., Reiffers, J., Ferrant, A., Bergmann, L., Visani, G., Cornelissen, J.J.L.M., Witte, T.J.M. de, Bost, A., Frassoni, F., Gorin, M.B., and Hematology

Subjects
The influence of donor lymphocytes on the repopulation pattern of blood cell populations after allogeneic bone marrow transplantation, De invloed van donor lymfocyten op het repopulatiepatroon van bloedcelpopulaties na allogene beenmergtransplantatie transplantatie
Abstract

Item does not contain fulltext

Published
2000

17. Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies.

Author

McKay, G.J., Patterson, C.C., Chakravarthy, U., Dasari, S., Klaver, C.C., Vingerling, J.R., Ho, L., de Jong, P.T.V.M., Fletcher, A.E., Young, I.S., Seland, J.H., Rahhu, M., Soubrane, G., Tomazzoli, L., Topouzis, F., Vioque, J., Hingorani, A.D., Sofat, R., Dean, M., Sawitzke, J., Seddon, J.M., Peter, I., Webster, A.R., Moore, A.T., Yates, J.R., Cipriani, V., Fritsche, L.G., Weber, B.H., Keilhauer, C.N., Lotery, A.J., Ennis, S., Klein, M.L., Francis, P.J., Stambolian, D., Orlin, A., Gorin, M.B., Weeks, D.E., Kuo, C.L., Swaroop, A., Othman, M., Kanda, A., Chen, W., Abecasis, G.R., Wright, A.F., Hayward, C., Baird, P.N., Guymer, R.H., Attia, J., Thakkinstian, A., Silvestri, G., McKay, G.J., Patterson, C.C., Chakravarthy, U., Dasari, S., Klaver, C.C., Vingerling, J.R., Ho, L., de Jong, P.T.V.M., Fletcher, A.E., Young, I.S., Seland, J.H., Rahhu, M., Soubrane, G., Tomazzoli, L., Topouzis, F., Vioque, J., Hingorani, A.D., Sofat, R., Dean, M., Sawitzke, J., Seddon, J.M., Peter, I., Webster, A.R., Moore, A.T., Yates, J.R., Cipriani, V., Fritsche, L.G., Weber, B.H., Keilhauer, C.N., Lotery, A.J., Ennis, S., Klein, M.L., Francis, P.J., Stambolian, D., Orlin, A., Gorin, M.B., Weeks, D.E., Kuo, C.L., Swaroop, A., Othman, M., Kanda, A., Chen, W., Abecasis, G.R., Wright, A.F., Hayward, C., Baird, P.N., Guymer, R.H., Attia, J., Thakkinstian, A., and Silvestri, G.

Published
2011

18. Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.

Author

McKay, G.J., Silvestri, G., Chakravarthy, U., Dasari, S., Fritsche, L.G., Weber, B.H., Keilhauer, C.N., Klein, M.L., Francis, P.J., Klaver, C.C., Vingerling, J.R., Ho, L., de Jong, P.T.V.M., Dean, M., Sawitzke, J., Baird, P.N., Guymer, R.H., Stambolian, D., Orlin, A., Seddon, J.M., Peter, I., Wright, A.F., Hayward, C., Lotery, A.J., Ennis, S., Gorin, M.B., Weeks, D.E., Kuo, C.L., Hingorani, A.D., Sofat, R., Cipriani, V., Swaroop, A., Othman, M., Kanda, A., Chen, W., Abecasis, G.R., Yates, J.R., Webster, A.R., Moore, A.T., Seland, J.H., Rahu, M., Soubrane, G., Tomazolli, L., Topouzis, F., Vioque, J., Young, I.S., Fletcher, A.E., Patterson, C.C., McKay, G.J., Silvestri, G., Chakravarthy, U., Dasari, S., Fritsche, L.G., Weber, B.H., Keilhauer, C.N., Klein, M.L., Francis, P.J., Klaver, C.C., Vingerling, J.R., Ho, L., de Jong, P.T.V.M., Dean, M., Sawitzke, J., Baird, P.N., Guymer, R.H., Stambolian, D., Orlin, A., Seddon, J.M., Peter, I., Wright, A.F., Hayward, C., Lotery, A.J., Ennis, S., Gorin, M.B., Weeks, D.E., Kuo, C.L., Hingorani, A.D., Sofat, R., Cipriani, V., Swaroop, A., Othman, M., Kanda, A., Chen, W., Abecasis, G.R., Yates, J.R., Webster, A.R., Moore, A.T., Seland, J.H., Rahu, M., Soubrane, G., Tomazolli, L., Topouzis, F., Vioque, J., Young, I.S., Fletcher, A.E., and Patterson, C.C.

Published
2011

22. Genetic heterogeneity of Usher syndrome type II

Author

Pieke Dahl, S, Kimberling, W, Gorin, M.B., Weston, M.D., Furman, J.M., Pikus, A., Möller, Claes, Pieke Dahl, S, Kimberling, W, Gorin, M.B., Weston, M.D., Furman, J.M., Pikus, A., and Möller, Claes

Abstract

Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p < 0.05. Further clinical evaluation of this family was done in light of the linkage results to determine if any phenotypic characteristics would allow for clinical identification of the unlinked type. No clear phenotypic differences were observed; however, this unlinked family may represent a previously unreported subtype of Usher type II characterised by a milder form of retinitis pigmentosa and mild vestibular abnormalities. Heterogeneity of Usher syndrome type II complicates efforts to isolate and clone Usher syndrome genes using linkage analysis and limits the use of DNA markers in early detection of Usher type II.

Published
1993
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23. Identification of novelRPGR(retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with theRP3locus

Author

Zito, I., Thiselton, D.L., Gorin, M.B., Stout, J.T., Plant, C., Bird, A.C., Bhattacharya, S.S., and Hardcastle, A.J.

Abstract

The X-linked form of retinitis pigmentosa (XLRP) is a severe disease of the retina, characterised by night blindness and visual field constriction in a degenerative process, culminating with complete loss of sight within the third decade of life. Genetic mapping studies have identified two major loci for XLRP:RP3(70%–75% of XLRP) andRP2(20%–25% of XLRP). TheRPGR(retinitis pigmentosa GTPase regulator) gene has been cloned within the RP3 genomic interval and it has been shown that 10%–20% of XLRP families have mutations in this gene. Here, we describe a single-strand conformational polymorphism-based mutation screening ofRPGRin a pool of 29 XLRP families for which the disease segregates with theRP3locus, in order to investigate the proportion ofRP3families withRPGRmutations and to relate the results to previous reports. Five different new mutations have been identified: two splice site mutations for exon 1 and three frameshift mutations in exons 7, 10 and 11. The percentage ofRPGRmutations identified is 17% (5/29) in our genetically well-defined population. This figure is comparable to the percentage ofRP2gene mutations that we have detected in our entire XLRP patient pool (10%–15%). A correlation ofRPGRmutations with phenotype in the families described in this study and the biochemical characterisation of reported mutations may provide insights into the function of the protein.

Published
1999
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