An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel
Published in Human genomics (01.08.2010)
Published in Human genomics (01.08.2010)
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Journal Article
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC 6 Variant
Issa, Peter Charbel, Tysoe, Carolyn, Caswell, Richard
Published in American journal of ophthalmology (01.10.2020)
Published in American journal of ophthalmology (01.10.2020)
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Journal Article
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
Charbel Issa, Peter, Tysoe, Carolyn, Caswell, Richard
Published in American journal of ophthalmology (01.10.2020)
Published in American journal of ophthalmology (01.10.2020)
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Journal Article
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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Journal Article
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Published in Prenatal diagnosis (01.01.2018)
Published in Prenatal diagnosis (01.01.2018)
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Journal Article
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy
Patel, Kashyap A., Knight, Bridget, Aziz, Aftab, Babiker, Tarig, Tamar, Avades, Findlay, Joanna, Cox, Sue, Dimitropoulos, Ioannis, Tysoe, Carolyn, Panicker, Vijay, Vaidya, Bijay
Published in Clinical endocrinology (Oxford) (01.02.2019)
Published in Clinical endocrinology (Oxford) (01.02.2019)
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Journal Article
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies
Matos-Miranda, Claudia, Nimmo, Graeme, Williams, Bradley, Tysoe, Carolyn, Owens, Martina, Bale, Sherri, Braverman, Nancy
Published in Genetics in medicine (01.08.2013)
Published in Genetics in medicine (01.08.2013)
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Journal Article
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C.E., Turner, Claire L.S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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Journal Article
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification
Mehta, Puja, Mitchell, Adam, Tysoe, Carolyn, Caswell, Richard, Owens, Martina, Vincent, Tonia
Published in Rheumatology (Oxford, England) (01.10.2012)
Published in Rheumatology (Oxford, England) (01.10.2012)
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Journal Article
Functional and in silico assessment of MAX variants of unknown significance
Comino-Méndez, Iñaki, Leandro-García, Luis J, Montoya, Guillermo, Inglada-Pérez, Lucía, de Cubas, Aguirre A., Currás-Freixes, María, Tysoe, Carolyn, Izatt, Louise, Letón, Rocío, Gómez-Graña, Álvaro, Mancikova, Veronika, Apellániz-Ruiz, María, Mannelli, Massimo, Schiavi, Francesca, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Timmers, Henri J. L. M., Roncador, Giovanna, Garcia, Juan F., Rodríguez-Antona, Cristina, Robledo, Mercedes, Cascón, Alberto
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2015)
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2015)
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Journal Article
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
Hartill, Verity L., Tysoe, Carolyn, Manning, Nigel, Dobbie, Angus, Santra, Saikat, Walter, John, Caswell, Richard, Koster, Janet, Waterham, Hans, Hobson, Emma
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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Journal Article
A neuropsychological investigation of male premutation carriers of fragile X syndrome
Moore, Caroline J., Daly, Eileen M., Schmitz, Nicole, Tassone, Flora, Tysoe, Carolyn, Hagerman, Randi J., Hagerman, Paul J., Morris, Robin G., Murphy, Kieran C., Murphy, Declan G.M.
Published in Neuropsychologia (2004)
Published in Neuropsychologia (2004)
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Journal Article
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
Moore, Caroline J., Daly, Eileen M., Tassone, Flora, Tysoe, Carolyn, Schmitz, Nicole, Ng, Virginia, Chitnis, Xavier, McGuire, Philip, Suckling, John, Davies, Kay E., Hagerman, Randi J., Hagerman, Paul J., Murphy, Kieran C., Murphy, Declan G. M.
Published in Brain (London, England : 1878) (01.12.2004)
Published in Brain (London, England : 1878) (01.12.2004)
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Journal Article
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
Tysoe, Carolyn, Law, Caroline J., Caswell, Richard, Clayton, Peter, Ellard, Sian
Published in Prenatal diagnosis (01.05.2008)
Published in Prenatal diagnosis (01.05.2008)
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Journal Article
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting
Ellard, Sian, Shields, Beverley, Tysoe, Carolyn, Treacy, Rebecca, Yau, Shu, Mattocks, Christopher, Wallace, Andrew
Published in Genetic testing and molecular biomarkers (01.06.2009)
Published in Genetic testing and molecular biomarkers (01.06.2009)
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Journal Article
Aberrant Splicing in the Presenilin-1 Intron 4 Mutation Causes Presenile Alzheimer's Disease by Increased Aβ42 Secretion
De Jonghe, Chris, MarcCruts, Rogaeva, Ekaterina A., Tysoe, Carolyn, Singleton, Andrew, Vanderstichele, Hugo, Meschino, Wendy, Dermaut, Bart, Vanderhoeven, Inge, Backhovens, Hubert, Vanmechelen, Eugeen, Morris, Christopher M., Hardy, John, Rubinsztein, David C., St George-Hyslop, Peter H., Van Broeckhoven, Christine
Published in Human molecular genetics (01.08.1999)
Published in Human molecular genetics (01.08.1999)
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Journal Article
A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease
Tysoe, Carolyn, Whittaker, Joanne, Xuereb, John, Cairns, Nigel J., Cruts, Marc, Van Broeckhoven, Christine, Wilcock, Gordon, Rubinsztein, David C.
Published in American journal of human genetics (01.01.1998)
Published in American journal of human genetics (01.01.1998)
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Journal Article
Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity
Galinsky, Daliah, Tysoe, Carolyn, Brayne, Carol E., Easton, Douglas F., Huppert, Felicia A., R. Dening, Thomas, Paykel, Eugene S., Rubinsztein, David C.
Published in Atherosclerosis (21.03.1997)
Published in Atherosclerosis (21.03.1997)
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