Search Results - "Saggar, Anand"

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome by Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

“…Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of…”
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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome by Salpietro, Vincenzo, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry

“…We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating…”
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Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis by S, Tim Doyle, L.R.C.P. &, Elmslie, Frances, Johnson, Simon R, Sci, Julian R. Sampson, D.M., F. Med, Kingswood, J. Chris, McCartney, Deborah L, de Vries, Petrus J, Davies, D. Mark, Cox, Jane A, Saggar, Anand, Tattersfield, Anne E

“…To the Editor: Tuberous sclerosis is an autosomal dominant disorder characterized by hamartomatous growths in many organs and caused by inherited mutations of…”
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Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study by McGovern, Andrew P, Jones, Simon, van Vlymen, Jeremy, Saggar, Anand K, Sandford, Richard, de Lusignan, Simon

“…Autosomal dominant polycystic kidney disease (ADPKD) causes progressive renal damage and is a leading cause of end-stage renal failure. With emerging therapies…”
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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome by Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.

“…An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we…”
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X-linked cataract and Nance-Horan syndrome are allelic disorders by Coccia, Margherita, Brooks, Simon P., Webb, Tom R., Christodoulou, Katja, Wozniak, Izabella O., Murday, Victoria, Balicki, Martha, Yee, Harris A., Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K., Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J., Maher, Eamonn R., Moore, Anthony T., Russell-Eggitt, Isabelle M., Hardcastle, Alison J.

“…Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases,…”
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A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding by Pavlidou, Efterpi, Ramachandran, Vijaya, Govender, Veronica, Wilson, Clare, Das, Rini, Vlachou, Victoria, Pavlou, Evangelos, Saggar, Anand, Mankad, Kshitij, Kinali, Maria

“…Abstract Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the…”
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes by Perrino, Peter A., Talbot, Lidiya, Kirkland, Rose, Hill, Amanda, Rendall, Amanda R., Mountford, Hayley S., Taylor, Jenny, Buscarello, Alexzandrea N., Lahiri, Nayana, Saggar, Anand, Fitch, R. Holly, Newbury, Dianne F.

“…Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of,…”
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Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype by Rossetti, Sandro, Chauveau, Dominique, Kubly, Vickie, Slezak, Jeffrey M, Saggar-Malik, Anand K, Pei, York, Ong, Albert CM, Stewart, Fiona, Watson, Michael L, Bergstralh, Erik J, Winearls, Christopher G, Torres, Vicente E, Harris, Peter C

“…Patients with autosomal dominant polycystic kidney disease (ADPKD) are at risk of developing intracranial aneurysms, and subarachnoid haemorrhage is a major…”
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Zellweger syndrome and secondary mitochondrial myopathy by Salpietro, Vincenzo, Phadke, Rahul, Saggar, Anand, Hargreaves, Iain P., Yates, Robert, Fokoloros, Christos, Mankad, Kshitij, Hertecant, Jozef, Ruggieri, Martino, McCormick, David, Kinali, Maria

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Ocular Treatment of Children With Stuve–Wiedemann Syndrome by Injarie, Anas M, Narang, Aman, Idrees, Zubair, Saggar, Anand K, Nischal, Ken K

“…PURPOSE:Stuve–Wiedemann syndrome is a rare condition consisting of bone dysplasia, hypotony, and dysautonomia with ocular and neuropathic features. We present…”
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Consanguinity and child health by Saggar, Anand K, Bittles, Alan H

“…Abstract Marriage between close biological kin is widely regarded as genetically disadvantageous in contemporary Western societies, but consanguineous unions…”
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A complete mutation screen of the ADPKD genes by DHPLC by Rossetti, Sandro, Chauveau, Dominique, Walker, Denise, Saggar-Malik, Anand, Winearls, Christopher G., Torres, Vicente E., Harris, Peter C.

“…A complete mutation screen of the ADPKD genes by DHPLC. Genetic analysis is a useful diagnostic tool in autosomal dominant polycystic kidney disease (ADPKD),…”
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Location of mutations within the PKD2 gene influences clinical outcome by Hateboer, Nick, Veldhuisen, Barbera, Peters, Dorien, Breuning, Martijn H., San-Millán, José L., Bogdanova, Nadja, Coto, Eliecer, Dijk, Marjan A.V., Afzal, Ali R., Jeffery, Steve, Saggar-Malik, Anand K., Torra, Roser, Dimitrakov, Dimitar, Martinez, Isabel, de Castro, Saturnino Sanz, Krawczak, Michael, Ravine, David

“…Location of mutations within the PKD2 gene influences clinical outcome. Since the cloning of the gene for autosomal dominant polycystic kidney disease type 2…”
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Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) by Whittock, Neil V., Izatt, Louise, Mann, Anuska, Homfray, Tessa, Bennett, Christopher, Mansour, Sahar, Hurst, Jane, Fryer, Alan, Saggar, Anand K., Barwell, Julian G., Ellard, Sian, Clayton, Peter T.

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Monozygotic twins and cholesteatomas: nature or nuture? by Brar, Sabrina, Wolf, Dennis M., Faoury, Morad, Barwell, Julian, Saggar, Anand, Daya, Hamid

“…Purpose Cholesteatoma is a rare middle ear pathology. It can be classified into acquired and congenital forms. Although benign, cholesteatomas can cause…”
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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance by Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

“…Purpose Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing…”
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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants by Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, Dokal, Inderjeet

“…The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition…”
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes by Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B

“…William Dobyns and colleagues report de novo germline and postzygotic mutations in AKT3 , PIK3R2 and PIK3CA in the sporadic overgrowth syndromes…”
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Comparison of phenotypes of polycystic kidney disease types 1 and 2 by Hateboer, Nick, v Dijk, Marjan A, Bogdanova, Nadja, Coto, Eliecer, Saggar-Malik, Anand K, Millan, Jose L San, Torra, Roser, Breuning, Martijn, Ravine, David

“…Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compared…”
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