Search Results - "Kalidas, Kamini"

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome by Tartaglia, Marco, Mehler, Ernest L, Goldberg, Rosalie, Zampino, Giuseppe, Brunner, Han G, Kremer, Hannie, van der Burgt, Ineke, Crosby, Andrew H, Ion, Andra, Jeffery, Steve, Kalidas, Kamini, Patton, Michael A, Kucherlapati, Raju S, Gelb, Bruce D

“…Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature and heart disease (most…”
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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity by Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., van der Burgt, Ineke, Brunner, Han G., Bertola, Débora R., Crosby, Andrew, Ion, Andra, Kucherlapati, Raju S., Jeffery, Steve, Patton, Michael A., Gelb, Bruce D.

“…Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently…”
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Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome by Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, Patton, Michael A., Sorcini, Mariella, van der Burgt, Ineke, Jeffery, Steve, Gelb, Bruce D.

“…Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a…”
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Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome by ION, Andra, TARTAGLIA, Marco, SOMER, Mirja, PARENTI, Giancarlo, CROSBY, Andrew H, PATTON, Michael A, GELB, Bruce D, JEFFERY, Steve, XIAOLING SONG, KALIDAS, Kamini, VAN DER BURGT, Ineke, SHAW, Adam C, MING, Jeffrey E, ZAMPINO, Giuseppe, ZACKAI, Elaine H, DEAN, John C. S

“…CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients…”
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Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 by Kalidas, Kamini, Shaw, Adam C, Crosby, Andrew H, Newbury-Ecob, Ruth, Greenhalgh, Lynn, Temple, Isabel K, Law, Caroline, Patel, Amisha, Patton, Michael A, Jeffery, Steve

“…LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of…”
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Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema by Gordon, Kristiana, Schulte, Dörte, Brice, Glen, Simpson, Michael A, Roukens, M Guy, van Impel, Andreas, Connell, Fiona, Kalidas, Kamini, Jeffery, Steve, Mortimer, Peter S, Mansour, Sahar, Schulte-Merker, Stefan, Ostergaard, Pia

“…RATIONALE:Mutations in vascular endothelial growth factor (VEGF) receptor-3 (VEGFR3 or FLT4) cause Milroy disease, an autosomal dominant condition that…”
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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype by Ostergaard, Pia, Simpson, Michael A, Brice, Glen, Mansour, Sahar, Connell, Fiona C, Onoufriadis, Alexandros, Child, Anne H, Hwang, Jae, Kalidas, Kamini, Mortimer, Peter S, Trembath, Richard, Jeffery, Steve

“…Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a…”
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Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia by Connell, Fiona, Kalidas, Kamini, Ostergaard, Pia, Brice, Glen, Homfray, Tessa, Roberts, Lesley, Bunyan, David J, Mitton, Sally, Mansour, Sahar, Mortimer, Peter, Jeffery, Steve

“…Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with…”
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Association of interleukin-6 -174G/C promoter polymorphism with hypertension and left ventricular hypertrophy in dialysis patients by Losito, Attilio, Kalidas, Kamini, Santoni, Stefania, Jeffery, Steve

“…Association of interleukin-6 -174G/C promoter polymorphism with hypertension and left ventricular hypertrophy in dialysis patients. Gene polymorphisms of…”
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Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases by Mansour, Sahar, Connell, Fiona, Steward, Colin, Ostergaard, Pia, Brice, Glen, Smithson, Sarah, Lunt, Peter, Jeffery, Steve, Dokal, Inderjeet, Vulliamy, Tom, Gibson, Brenda, Hodgson, Shirley, Cottrell, Sally, Kiely, Louise, Tinworth, Lorna, Kalidas, Kamini, Mufti, Ghulam, Cornish, Jackie, Keenan, Russell, Mortimer, Peter, Murday, Victoria

“…Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report…”
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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) by Oka, Yoshitomo, Inoue, Hiroshi, Mueckler, Mike, Tanizawa, Yukio, Mikuni, Masahiko, Rogers, Douglas, Kumashiro, Hisashi, Kalidas, Kamini, Wasson, Jon, Sobue, Gen, Behn, Philip, Marshall, Helen, Donis-Keller, Helen, Higashi, Koichiro, Bernal-Mizrachi, Ernesto, Crock, Patricia, Permutt, M. Alan

“…Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus…”
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Erratum to: Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia by Connell, Fiona, Kalidas, Kamini, Ostergaard, Pia, Brice, Glen, Homfray, Tessa, Roberts, Lesley, Bunyan, David J., Mitton, Sally, Mansour, Sahar, Mortimer, Peter, Jeffery, Steve

“…The online version of the original article can be found under doi: 10.1007/s00439-009-0766-y…”
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CD14 C(-260) T promoter polymorphism and prevalence of acute coronary syndromes by Arroyo-Espliguero, Ramón, El-Sharnouby, Khaled, Vázquez-Rey, Eugenia, Kalidas, Kamini, Jeffery, Steve, Kaski, Juan Carlos

“…Background: Inflammation and infection have been implicated in atherosclerosis and its complications. The CD14 receptor mediates monocyte activation by…”
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Polymorphism of renin–angiotensin system genes in dialysis patients—association with cerebrovascular disease by Losito, Attilio, Kalidas, Kamini, Santoni, Stefania, Ceccarelli, Luigi, Jeffery, Steve

“…Background. Polymorphisms of genes of the renin–angiotensin system (RAS) have been found in association with cerebrovascular and cardiovascular diseases in the…”
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Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS) by Baralle, Diana, Mattocks, Chris, Kalidas, Kamini, Elmslie, Frances, Whittaker, Joanne, Lees, Melissa, Ragge, Nicola, Patton, Michael A., Winter, Robin M., ffrench-Constant, Charles

“…The association of the Noonan phenotype with neurofibromatosis type 1 (NF1) was first noted by Allanson et al. [Am J Med Genet 1985;21:457–462.] and 30 further…”
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Association of the -159C/T polymorphism of the endotoxin receptor (CD14) with carotid artery disease and cardiovascular mortality in dialysis patients by Losito, Attilio, Kalidas, Kamini, Santoni, Stefania, Errico, Rosa, Jeffery, Steve

“…Atherosclerosis is a major problem in end-stage renal disease (ESRD) patients treated by hemodialysis and the prevalence of carotid artery disease is much…”
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C(−260)→T polymorphism in the promoter of CD14 receptor gene is associated with the risk of acute coronary events in patients with angina pectoris by Arroyo-Espliguero, Ramon, Vazquez-Rey, Eugenia, El-Sharnouby, Khaled, Kalidas, Kamini, Gimeno-Blanes, Juan R., Cole, Della, Jeffery, Steve, Kaski, Juan C.

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Prohormone convertase 1 in obesity, gestational diabetes mellitus, and NIDDM : No evidence for a major susceptibility role by KALIDAS, K, DOW, E, JOHNSTON, D. G, O'RAHILLY, S, MCCARTHY, M. I, SAKER, P. J, WAREHAM, N, HALSALL, D, JACKSON, R. S, CHAN, S.-P, GELDING, S, WALKER, M, KOUSTA, E

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Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases by Mansour, Sahar, Connell, Fiona, Steward, Colin, Ostergaard, Pia, Brice, Glen, Smithson, Sarah, Lunt, Peter, Jeffery, Steve, Dokal, Inderjeet, Vulliamy, Tom, Gibson, Brenda, Hodgson, Shirley, Cottrell, Sally, Kiely, Louise, Tinworth, Lorna, Kalidas, Kamini, Mufti, Ghulam, Cornish, Jackie, Keenan, Russell, Mortimer, Peter, Murday, Victoria

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