Search Results - "Sharif, Saba"

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas by Smith, Miriam J, O'Sullivan, James, Bhaskar, Sanjeev S, Hadfield, Kristen D, Poke, Gemma, Caird, John, Sharif, Saba, Eccles, Diana, Fitzpatrick, David, Rawluk, Daniel, du Plessis, Daniel, Newman, William G, Evans, D Gareth

“…William Newman, Gareth Evans and colleagues report that loss-of-function mutations in SMARCE1 cause an inherited disorder characterized by multiple spinal…”
Get full text

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures by Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly

“…Objective Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH…”
Get full text

Structural and functional properties of milk proteins as affected by heating, high pressure, Gamma and ultraviolet irradiation: a review by Abbas Syed, Qamar, Hassan, Ali, Sharif, Saba, Ishaq, Anum, Saeed, Farhan, Afzaal, Muhammad, Hussain, Muzzamal, Anjum, Faqir Muhammad

“…The current review focused on the effect of different thermal and non-thermal processing techniques on the structural and functional modifications of milk…”
Get full text

Second Primary Tumors in Neurofibromatosis 1 Patients Treated for Optic Glioma: Substantial Risks After Radiotherapy by SHARIF, Saba, FERNER, Rosalie, BIRCH, Jillian M, GILLESPIE, James E, RAO GATTAMANENI, H, BASER, Michael E, EVANS, D. Gareth R

“…Optic pathway gliomas (OPGs) are the most common CNS tumor in neurofibromatosis 1 (NF1) patients. We evaluated the long-term risk of second tumors in…”
Get full text

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans by Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J

“…Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their…”
Get full text

Detection of IgE antibodies to bacitracin using a commercially available streptavidin-linked solid phase in a patient with anaphylaxis to triple antibiotic ointment by Sharif, Saba, MD, Goldberg, Bruce, MD, PhD

“…Background Bacitracin is a commonly used topical antibiotic that has on occasion been reported to cause anaphylaxis. Evidence of the role of bacitracin…”
Get full text

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling by Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne

“…Objective We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the…”
Get full text

Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial by Child, Anne, Stuart, A Graham, Aragon-Martin, José Antonio, Yuan, Li, Hu, Jiangting, Van Dyck, Laura, Knight, Rosemary, Clayton, Tim, Flather, Marcus, Dean, John, Gow, Heather, Murray, Jane, D'Allessandro, Mariella, Burns, Sharon, Paterson, Yvonne, Cotter, Catherine, Barclay, Justin, Prentice, Scott, O'Sullivan, John, Head-Baister, Alison, Crossland, D, Oliver, Jack, Wake, Jill, Quinn, Louise, Wealleans, Vera, Walker, Niki, Khambadkone, Sachin, Brady, Cassie, Szepezvary, Eszter, Titmus, Heather, Bo, Ilaria, Green, Loren, Jones, Nigel, Banks, Rebecca, Kiesewetter, Christopher, Mathur, Sujeev, Savis, Alex, Guzman, Josephine, Harris, Julia, Peacock, Kelly, Gibson, Kirsty, Kabir, Saleha, Mushemi, Sitali, Richardson, Cath, Leng, Elaine, Brennan, Paul, Nixon, Annabel, Turner, Louise, Bainbridge, Samantha, Kerr, Heather, Mordi, Ify, Duff, Jackie, Berg, Jonathan, Armory, Pauline, Freeman, Leisa, Anwar, Amir, Healey, Gail, Ilsley, Mary, Wood, Sheila, Wheeldon, Nigel, Middle, Janet, Walker, Rachel, Bennett, Tina, Clift, Paul, Alvior, Amor Mia, Green, Carole, West, Cathy, Naqvi, Nitha, Welch, Sophie, Farzad, Zohreh, Smith, Ben, Murday, Victoria, Murtagh, Eamonn, Adams, Emma, Richards, Amy, Andiapen, Mervyn, Hutchinson, Carmel, Newman, William G, Breen, Catherine, Kumar, Dhavendra, Wilson, Dirk G, Farrugia, Adele, Powell, Jessie, Hale, Terese, Boult, Zoe, Carroll, Aisling, Veldtman, Gruschen, Fletcher, Lisa, Mapstone, Sue, Marsh, Gary, Jones, Joanne, Sheehan, Karen, Stevenson, Kirsty, Nelson, Martin, Fairweather, Rebecca, Simpson, Sue, Steven, Jill, Munro, Joanna, Petrou, Mario, MacAllister, Raymond

“…Irbesartan, a long acting selective angiotensin-1 receptor inhibitor, in Marfan syndrome might reduce aortic dilatation, which is associated with dissection…”
Get full text

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing by Evans, D. Gareth, Hartley, Claire L., Smith, Philip T., King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K. W., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia K., Obholzer, Rupert, Duff, Chris, Stivaros, Stavros M., Vassallo, Grace, Harkness, Elaine F., Smith, Miriam J.

“…Purpose To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2). Methods Patients fulfilling NF2 criteria, but with no known affected…”
Get full text

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing by Evans, D. Gareth, King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K.L., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia, Ferner, Rosalie E., Harkness, Elaine F., Smith, Miriam J.

“…We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Two large databases of individuals fulfilling NF2 criteria…”
Get full text

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2 by Renard, Marjolijn, Callewaert, Bert, Malfait, Fransiska, Campens, Laurence, Sharif, Saba, del Campo, Miguel, Valenzuela, Irene, Mcwilliam, Catherine, Coucke, Paul, De Paepe, Anne, De Backer, Julie

Get full text

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype by Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

“…Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define…”
Get full text

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease by Blakely, Emma L., Yarham, John W., Alston, Charlotte L., Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H., Anderson, Kirstie N., Compston, Alistair, Allen, Chris, Sharif, Saba, Enevoldson, Peter, Wilson, Martin, Hammans, Simon R., Turnbull, Douglass M., McFarland, Robert, Taylor, Robert W.

“…ABSTRACT Mutations in the mitochondrial genome, and in particular the mt‐tRNAs, are an important cause of human disease. Accurate classification of the…”
Get full text

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium by Kast, Karin, John, Esther M, Hopper, John L, Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K, Ausems, Margreet G E M, Garcia, Encarnacion B Gomez, van de Beek, Irma, Wevers, Marijke R, Evans, D Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V, Andrulis, Irene L, Daly, Mary B, Southey, Melissa C, de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F, Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K, Milne, Roger L, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E, Mooij, Thea M, Antoniou, Antonis C, Easton, Douglas F, Rookus, Matti A, Engel, Christoph

“…Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also…”
Get full text

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature by Cleaver, Ruth, Berg, Jonathan, Craft, Emily, Foster, Alison, Gibbons, Richard J., Hobson, Emma, Lachlan, Katherine, Naik, Swati, Sampson, Julian R., Sharif, Saba, Smithson, Sarah, Parker, Michael J., Tatton‐Brown, Katrina

“…Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part…”
Get full text

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations by Sharif, Saba, Upadhyaya, Meena, Ferner, Rosalie, Majounie, Elisa, Shenton, Andrew, Baser, Michael, Thakker, Nalin, Evans, D Gareth

“…Neurofibromatosis type 1 (NF1) affects 1 in 2500 people, and 15% of these may develop an optic pathway glioma (OPG). OPGs behave differently in NF1, and, given…”
Get more information

Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 by Slevin, Hannah, Kehinde, Fiona, Begum-Ali, Jannath, Ellis, Ceri, Burkitt-Wright, Emma, Green, Jonathan, Johnson, Mark H, Pasco, Greg, Charman, Tony, Jones, Emily J H, Garg, Shruti

“…Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which…”
Get full text

Impact of industrial effluents and simulated acid rain on growth, productivity and metal contamination in mungbean (Vigna radiate L.) by Nazir, Saba

“…Environmental pollution poses a great health hazard to human beings, animals and plants. Industrial effluents and acid rain are the major pollutants that have…”
Get full text

2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study.(Best Articles Relevant to Pediatric Allergy and Immunology) by Sharif, Saba, Kaplan, Michael S

“…Hall IP, Blakey JD, Al Balushi KA, et al. LANCET: 2006; 368:771-779 PURPOSE OF THE STUDY. To determine if functionally relevant polymorphisms in the…”
Get full text

β2-Adrenoceptor Polymorphisms and Asthma From Childhood to Middle Age in the British 1958 Birth Cohort: A Genetic Association Study by Sharif, Saba, Kaplan, Michael S.

“…Hall IP, Blakey JD, Al Balushi KA, et al. Lancet. 2006;368:771–779 PURPOSE OF THE STUDY. To determine if functionally relevant polymorphisms in the…”
Get full text