Search Results - "PERVEEN, Rahat"

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease by Ellingford, Jamie M., MRes, Barton, Stephanie, BSc, Bhaskar, Sanjeev, MSc, Williams, Simon G., PhD, Sergouniotis, Panagiotis I., PhD, O'Sullivan, James, BSc, Lamb, Janine A., DPhil, Perveen, Rahat, BSc, Hall, Georgina, MSc, Newman, William G., PhD, Bishop, Paul N., PhD, Roberts, Stephen A., PhD, Leach, Rick, PhD, Tearle, Rick, PhD, Bayliss, Stuart, BSc, Ramsden, Simon C., PhD, Nemeth, Andrea H., DPhil, Black, Graeme C.M., DPhil

“…Purpose To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease…”
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Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families by Faily, Sara, Perveen, Rahat, Chandler, Kate, Clayton-Smith, Jill

“…Objective: Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face,…”
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Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina by Clark, Simon J., Perveen, Rahat, Hakobyan, Svetlana, Morgan, B. Paul, Sim, Robert B., Bishop, Paul N., Day, Anthony J.

“…Age-related macular degeneration (AMD) is the predominant cause of blindness in the industrialized world where destruction of the macula, i.e. the central…”
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C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation by Swinkels, Maurice, Zhang, Justine H., Tilakaratna, Viranga, Black, Graeme, Perveen, Rahat, McHarg, Selina, Inforzato, Antonio, Day, Anthony J., Clark, Simon J.

“…Retinal inflammation plays a key role in the progression of age-related macular degeneration (AMD), a condition that leads to loss of central vision. The…”
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Further delineation of the KAT6B molecular and phenotypic spectrum by Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill

“…KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes…”
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MIR204 n. 37C >T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma by Jedlickova, Jana, Vajter, Marie, Barta, Tomas, Black, Graeme C. M., Perveen, Rahat, Mares, Jan, Fichtl, Marek, Kousal, Bohdan, Dudakova, Lubica, Liskova, Petra

“…Abstract Four members of a three‐generation Czech family with early‐onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in…”
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Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26 by Mcharg, Selina, Booth, Laura, Perveen, Rahat, Garcia, Isabel Riba, Brace, Nicole, Bayatti, Nadhim, Sergouniotis, Panagiotis I, Phillips, Alexander M, Day, Anthony J, M Black, Graeme C, Clark, Simon J, Dowsey, Andrew W, Unwin, Richard D, Bishop, Paul N

“…Age-related macular degeneration (AMD) is a leading cause of visual loss. It has a strong genetic basis, and common haplotypes on chromosome (Chr) 1 (CFH Y402H…”
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MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma by Jedlickova, Jana, Vajter, Marie, Barta, Tomas, Black, Graeme C. M., Perveen, Rahat, Mares, Jan, Fichtl, Marek, Kousal, Bohdan, Dudakova, Lubica, Liskova, Petra

“…Four members of a three‐generation Czech family with early‐onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The…”
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Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26 by Mcharg, Selina, Booth, Laura, Perveen, Rahat, Riba Garcia, Isabel, Brace, Nicole, Bayatti, Nadhim, Sergouniotis, Panagiotis I, Phillips, Alexander M, Day, Anthony J, Black, Graeme C M, Clark, Simon J, Dowsey, Andrew W, Unwin, Richard D, Bishop, Paul N

“…Age-related macular degeneration (AMD) is a leading cause of visual loss. It has a strong genetic basis, and common haplotypes on chromosome (Chr) 1 (CFH Y402H…”
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Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects by Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau, Cheung, Ka Wang, Kerstjens‐Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta‐Shma, Asaf

“…Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a…”
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Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families by Faily, Sara, Perveen, Rahat, Urquhart, Jill, Chandler, Kate, Clayton-Smith, Jill

“…We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead…”
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Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency by Knerr, Ina, Colombo, Roberto, Urquhart, Jill, Morais, Ana, Merinero, Begona, Oyarzabal, Alfonso, Pérez, Belén, Jones, Simon A., Perveen, Rahat, Preece, Mary A., Rogers, Yvonne, Treacy, Eileen P., Mayne, Philip, Zampino, Giuseppe, MacKinnon, Sabrina, Wassmer, Evangeline, Yue, Wyatt W., Robinson, Ian, Rodríguez‐Pombo, Pilar, Olpin, Simon E., Banka, Siddharth

“…The first step in branched‐chain amino acid (BCAA) catabolism is catalyzed by the two BCAA transferase isoenzymes, cytoplasmic branched‐chain amino acid…”
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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum by Ashton, Chloe Jade, Perveen, Rahat, Beaman, Glenda, Crisponi, Giangiorgio, González-Del Angel, Ariadna, Garza-Mayén, Gilda, Alcántara-Ortigoza, Miguel Angel, O’Sullivan, James, Clayton-Smith, Jill

“…The 3MC syndromes types 1–3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes…”
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Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization by Greenlees, Rebecca, Mihelec, Marija, Yousoof, Saira, Speidel, Daniel, Wu, Selwin K, Rinkwitz, Silke, Prokudin, Ivan, Perveen, Rahat, Cheng, Anson, Ma, Alan, Nash, Benjamin, Gillespie, Rachel, Loebel, David A F, Clayton-Smith, Jill, Lloyd, I Christopher, Grigg, John R, Tam, Patrick P L, Yap, Alpha S, Becker, Thomas S, Black, Graeme C M, Semina, Elena, Jamieson, Robyn V

“…Correct morphogenesis and differentiation are critical in development and maintenance of the lens, which is a classic model system for epithelial development…”
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Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy by BISWAS, Susmito, MUNIER, Francis L, HACKETT, Anna, BONSHEK, Richard, RIDGWAY, Alan, MCLEOD, David, SHEFFIELD, Val C, STONE, Edwin M, SCHORDERET, Daniel F, BLACK, Graeme C. M, YARDLEY, Jill, HART-HOLDEN, Niki, PERVEEN, Rahat, COUSIN, Pascal, SUTPHIN, John E, NOBLE, Bruce, BATTERBURY, Mark, KIELTY, Cay

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport by Kolehmainen, Juha, Black, Graeme C.M., Saarinen, Anne, Chandler, Kate, Clayton-Smith, Jill, Träskelin, Ann-Liz, Perveen, Rahat, Kivitie-Kallio, Satu, Norio, Reijo, Warburg, Mette, Fryns, Jean-Pierre, Chapelle, Albert de la, Lehesjoki, Anna-Elina

“…Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and…”
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR by Black, Graeme C M, Ng, David, Thakker, Nalin, Corcoran, Connie M, Donnai, Dian, Perveen, Rahat, Schneider, Adele, Hadley, Donald W, Tifft, Cynthia, Zhang, Liqun, Wilkie, Andrew O M, van der Smagt, Jasper J, Gorlin, Robert J, Burgess, Shawn M, Bardwell, Vivian J, Biesecker, Leslie G

“…Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci…”
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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity by Sergouniotis, Panagiotis I, Barton, Stephanie J, Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M, Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L, Bhaskar, Sanjeev S, Ramsden, Simon C, Black, Graeme C, Lovell, Simon C

“…Although the majority of small in-frame insertions/deletions (indels) has no/little affect on protein function, a small subset of these changes has been…”
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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 by Nishimura, Darryl Y., Baye, Lisa M., Perveen, Rahat, Searby, Charles C., Avila-Fernandez, Almudena, Pereiro, Ines, Ayuso, Carmen, Valverde, Diana, Bishop, Paul N., Manson, Forbes D.C., Urquhart, Jill, Stone, Edwin M., Slusarski, Diane C., Black, Graeme C.M., Sheffield, Val C.

“…Retinitis pigmentosa is a genetically heterogeneous group of inherited ocular disorders characterized by progressive photoreceptor cell loss, night blindness,…”
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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects by HILTON, Emma, JOHNSTON, Jennifer, KOSAKI, Kenjiro, MANOUVRIER, Sylvie, BOUTE, Odile, PERVEEN, Rahat, LAW, Caroline, MOORE, Anthony, FITZPATRICK, David, LEMKE, Johannes, FELLMANN, Florence, DEBRAY, François-Guillaume, WHALEN, Sandra, DASTOT-LE-MOAL, Florence, GERARD, Marion, MARTIN, Josiane, BITOUN, Pierre, GOOSSENS, Michel, VERLOES, Alain, SCHINZEL, Albert, BARTHOLDI, Deborah, BARDAKJIAN, Tanya, HAY, Beverly, OKAMOTO, Nobuhiko, JENNY, Kim, JOHNSTON, Kathreen, LYONS, Michael, BELMONT, John W, BIESECKER, Leslie G, GIURGEA, Irina, BLACK, Graeme, HATSUKAWA, Yoshikazu, NISHIO, Juntaro, KOHARA, Hiroshi, HIRANO, Yoshiko, MIZUNO, Seiji, TORII, Chiharu

“…Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental,…”
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