De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
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.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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X-linked cataract and Nance-Horan syndrome are allelic disorders
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.
Published in Human molecular genetics (15.07.2009)
Published in Human molecular genetics (15.07.2009)
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Journal Article
Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype
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
Published in The Lancet (British edition) (28.06.2003)
Published in The Lancet (British edition) (28.06.2003)
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Ocular treatment of children with Stuve-Wiedemann syndrome
Injarie, Anas M, Narang, Aman, Idrees, Zubair, Saggar, Anand K, Nischal, Ken K
Published in Cornea (01.03.2012)
Published in Cornea (01.03.2012)
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Location of mutations within the PKD2 gene influences clinical outcome
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
Published in Kidney international (01.04.2000)
Published in Kidney international (01.04.2000)
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Journal Article
Conference Proceeding
Comparison of phenotypes of polycystic kidney disease types 1 and 2
Hateboer, Nick, v Dijk, Marjan A, Bogdanova, Nadja, Coto, Eliecer, Saggar-Malik, Anand K, Millan, Jose L San, Torra, Roser, Breuning, Martijn, Ravine, David
Published in The Lancet (British edition) (01.01.1999)
Published in The Lancet (British edition) (01.01.1999)
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Journal Article
Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
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.
Published in Journal of investigative dermatology (01.10.2003)
Published in Journal of investigative dermatology (01.10.2003)
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The effect of sodium and angiotensin-converting enzyme inhibition on the classic circulating renin-angiotensin system in autosomal-dominant polycystic kidney disease patients
Doulton, Timothy W, Saggar-Malik, Anand K, He, Feng J, Carney, Christine, Markandu, Nirmala D, Sagnella, Guiseppe A, MacGregor, Graham A
Published in Journal of hypertension (01.05.2006)
Published in Journal of hypertension (01.05.2006)
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
RIVIERE, Jean-Baptiste, MIRZAA, Ghayda 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, O'ROAK, Brian J, DROLET, Beth A, INNES, Amicheil, LAUZON, Juliel, LIN, Angela E, MANCINI, Grazia M. S, MESCHINO, Wendy S, REGGIN, James D, SAGGAR, Anand K, LERMAN-SAGIE, Tally, UYANIK, Gokhan, BEDDAOUI, Margaret, 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, ALCANTARA, Diana, CONWAY, Robert L, ST-ONGE, Judith, SCHWARTZENTRUBER, Jeremy A, GRIPP, Karen W, NIKKEL, Sarah M
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3
Jeffery, S, Saggar-Malik, A K, Morgan, S, MacGregor, G A
Published in Clinical genetics (01.10.1993)
Published in Clinical genetics (01.10.1993)
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Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases
Sithambaram, Sivagamy, Bishop, Nick, Shankar, Lata, Offiah, Amaka C, Pollitt, Rebecca C, Balasubramanian, Meena, Saggar, Anand K, Arundel, Paul
Published in Bone Abstracts (11.07.2017)
Published in Bone Abstracts (11.07.2017)
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Journal Article
Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease
Saggar-Malik, A K, Afzal, A R, Swissman, J S, Bland, M, Sagnella, G A, Eastwood, J B, MacGregor, G A, Jeffery, S
Published in Genetic testing (2000)
Published in Genetic testing (2000)
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