Chromosome Abnormalities and Genetic Counseling: Fourth Edition

le Izatt, Louise
Foilsithe in Clin Med (Lond) (2012)

Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature

le Sawicka Elizabeth, Izatt Louise, Warwick Geoffrey
Foilsithe 2010-04-01

Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature

le Warwick, Geoffrey, Izatt, Louise, Sawicka, Elizabeth
Foilsithe 2010

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy

le Maltese, Giuseppe, Izatt, Louise, McGowan, Barbara M., Hafeez, Kashif, Hubbard, Johnathan G., Carroll, Paul V.
Foilsithe in Clin Case Rep (2017)

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

le Loveday, Chey, Josephs, Katherine, Chubb, Daniel, Gunning, Adam, Izatt, Louise, Tischkowitz, Marc, Ellard, Sian, Turnbull, Clare
Foilsithe in J Clin Endocrinol Metab (2018)

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

le Frost, Amy R, Böhm, Sabrina V, Sewduth, Raj N, Josifova, Dragana, Ogilvie, Caroline Mackie, Izatt, Louise, Roberts, Roland G
Foilsithe 2010

Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay

le Grey, William, Izatt, Louise, Sahraoui, Wafa, Ng, Yiu-Ming, Ogilvie, Caroline, Hulse, Anthony, Tse, Eric, Holic, Roman, Yu, Veronica
Foilsithe 2013

SUN-344 SDHB Immunostaining: Still an Indispensable Tool in Characterising Pheochromocytoma and Paraganglioma

le Velusamy, Anand, Moonim, Mufaddal, Hubbard, Johnathan, McGowan, Barbara, Powrie, Jake, Izatt, Louise, Obholzer, Rupert, Jacques, Audrey, Breen, Louise, Carroll, Paul
Foilsithe in J Endocr Soc (2019)

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

le Hanson, Helen, Brady, Angela F, Crawford, Gillian, Eeles, Rosalind A, Gibson, Sarah, Jorgensen, Mette, Izatt, Louise, Sohaib, Aslam, Tischkowitz, Marc, Evans, D Gareth
Foilsithe in J Med Genet (2021)

Gene promoter hypermethylation in ductal lavage fluid from healthy BRCA gene mutation carriers and mutation-negative controls

le Locke, Imogen, Kote-Jarai, Zsofia, Jo Fackler, Mary, Bancroft, Elizabeth, Osin, Peter, Nerurkar, Ashutosh, Izatt, Louise, Pichert, Gabriella, Gui, Gerald PH, Eeles, Rosalind A
Foilsithe 2007

The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2a Caused by the Rare Intracellular RET Mutation S891A

le Schulte, Klaus-Martin, Machens, Andreas, Fugazzola, Laura, McGregor, Alan, Diaz-Cano, Salvador, Izatt, Louise, Aylwin, Simon, Talat, Nadia, Beck-Peccoz, Paolo, Dralle, Henning
Foilsithe in Mol Endocrinol (2010)

MON-924 Susceptibility Genetic Testing and Functional Imaging Modalities in the Management of Bladder Paragangliomas

le Anandappa, Samantha, Joshi, Mamta, Breen, Louise A, Thurairaja, Ramesh, Christodoulou, Dimitra, Jacques, Audrey, McGowan, Barbara Maria Cristina, Izatt, Louise, Velusamy, Anand, Carroll, Paul V
Foilsithe in J Endocr Soc (2020)

Using Multimodal Functional Imaging in the Management of SDHx-Related Pheochromocytoma and Paraganglioma

le White, Gemma, Anandappa, Samantha, Masucci, Michael, Hassan, Fahim-Ul, Breen, Louise, Joshi, Mamta, McGowan, Barbara, Hubbard, Jonathan, Obholzer, Rupert, Touska, Philip, Izatt, Louise, Velusamy, Anand, Carroll, Paul
Foilsithe in J Endocr Soc (2021)

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

le Evans, D Gareth R, Barwell, Julian, Eccles, Diana M, Collins, Amanda, Izatt, Louise, Jacobs, Chris, Donaldson, Alan, Brady, Angela F, Cuthbert, Andrew, Harrison, Rachel, Thomas, Sue, Howell, Anthony, Miedzybrodzka, Zosia, Murray, Alex
Foilsithe in Breast Cancer Res (2014)

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

le Ahmed, S. Faisal, Achermann, John C., Arlt, Wiebke, Balen, Adam, Conway, Gerry, Edwards, Zoe, Elford, Sue, Hughes, Ieuan A., Izatt, Louise, Krone, Nils, Miles, Harriet, O'Toole, Stuart, Perry, Les, Sanders, Caroline, Simmonds, Margaret, Watt, Andrew, Willis, Debbie
Foilsithe in Clin Endocrinol (Oxf) (2015)

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

le Ahmed, S Faisal, Achermann, John C, Arlt, Wiebke, Balen, Adam H, Conway, Gerry, Edwards, Zoe L, Elford, Sue, Hughes, Ieuan A, Izatt, Louise, Krone, Nils, Miles, Harriet L, O'Toole, Stuart, Perry, Les, Sanders, Caroline, Simmonds, Margaret, Wallace, A Michael, Watt, Andrew, Willis, Debbie
Foilsithe 2011

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

le Lodish, Maya B., Yuan, Bo, Levy, Isaac, Braunstein, Glenn D., Lyssikatos, Charalampos, Salpea, Paraskevi, Szarek, Eva, Karageorgiadis, Alexander S., Belyavskaya, Elena, Raygada, Margarita, Faucz, Fabio Rueda, Izatt, Louise, Brain, Caroline, Gardner, James, Quezado, Martha, Carney, J. Aidan, Lupski, James R., Stratakis, Constantine A.
Foilsithe in Eur J Endocrinol (2015)

When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

le Gianetti, Elena, Hall, Janet E., Au, Margaret G., Kaiser, Ursula B., Quinton, Richard, Stewart, Jane A., Metzger, Daniel L., Pitteloud, Nelly, Mericq, Veronica, Merino, Paulina M., Levitsky, Lynne L., Izatt, Louise, Lang-Muritano, Mariarosaria, Fujimoto, Victor Y., Dluhy, Robert G., Chase, Matthew L., Crowley, William F., Plummer, Lacey, Seminara, Stephanie B.
Foilsithe 2012

Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)

le Rogers, Angela, Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Gorvin, Caroline M., Cranston, Treena, Allgrove, Jeremy, Bevan, John S., Bano, Gul, Brain, Caroline, Datta, Vipan, Grossman, Ashley B., Hodgson, Shirley V., Izatt, Louise, Millar-Jones, Lynne, Pearce, Simon H., Robertson, Lisa, Selby, Peter L., Shine, Brian, Snape, Katie, Warner, Justin, Thakker, Rajesh V.
Foilsithe in J Clin Endocrinol Metab (2014)

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

le Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.
Foilsithe in Mol Genet Genomic Med (2017)