An SCN9A channelopathy causes congenital inability to experience pain
Reimann, Frank, McHale, Duncan P, Valente, Enza Maria, Jafri, Hussain, Al-Gazali, Lihadh, Gribble, Fiona M, Thornton, Gemma, Gorman, Shaun, Williams, Richard, Wood, John N, Nicholas, Adeline K, Roberts, Emma, Mannan, Jovaria, Springell, Kelly, Woods, C. Geoffrey, Cox, James J, Raashid, Yasmin, Karbani, Gulshan, Hamamy, Henan
Published in Nature (14.12.2006)
Published in Nature (14.12.2006)
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The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Journal Article
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency
Bacchelli, Chiara, PhD, Moretti, Federico A., PhD, Carmo, Marlene, PhD, Adams, Stuart, PhD, Stanescu, Horia C., PhD, Pearce, Kerra, PhD, Madkaikar, Manisha, MD, PhD, Gilmour, Kimberly C., PhD, Nicholas, Adeline K., PhD, Woods, C. Geoffrey, MD, PhD, Kleta, Robert, MD, PhD, Beales, Phil L., MD, PhD, Qasim, Waseem, MD, PhD, Gaspar, H. Bobby, MD, PhD
Published in Journal of allergy and clinical immunology (01.02.2017)
Published in Journal of allergy and clinical immunology (01.02.2017)
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A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome
Roche, Edna F., McGowan, Anne, Koulouri, Olympia, Turgeon, Marc‐Olivier, Nicholas, Adeline K., Heffernan, Emmeline, El‐Khairi, Ranna, Abid, Noina, Lyons, Greta, Halsall, David, Bonomi, Marco, Persani, Luca, Dattani, Mehul T., Gurnell, Mark, Bernard, Daniel J., Schoenmakers, Nadia
Published in Clinical endocrinology (Oxford) (01.12.2018)
Published in Clinical endocrinology (Oxford) (01.12.2018)
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A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
Stern, Eve, Schoenmakers, Nadia, Nicholas, Adeline K., Kassif, Eran, Hamiel, Orit Pinhas, Yeshayahu, Yonatan
Published in Journal of clinical research in pediatric endocrinology (01.06.2022)
Published in Journal of clinical research in pediatric endocrinology (01.06.2022)
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Cervical cell lift: A novel triage method for the spatial mapping and grading of precancerous cervical lesions
Shiraz, Aslam, Egawa, Nagayasu, Pelt, Daniël M., Crawford, Robin, Nicholas, Adeline K., Romashova, Veronika, Sasieni, Peter, Griffin, Heather, Doorbar, John
Published in EBioMedicine (01.08.2022)
Published in EBioMedicine (01.08.2022)
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Cangul, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Iwayama, Hideyuki, Serra, Eva G, Saglam, Halil, Eren, Erdal, Tarim, Omer, Nicholas, Adeline K, Zvetkova, Ilona, Anderson, Carl A, Frankl, Fiona E Karet, Boelaert, Kristien, Ojaniemi, Marja, Jääskeläinen, Jarmo, Patyra, Konrad, Löf, Christoffer, Williams, E Dillwyn, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R, Chatterjee, V Krishna, Refetoff, Samuel, Schoenmakers, Nadia
Published in JCI insight (18.10.2018)
Published in JCI insight (18.10.2018)
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Journal Article
Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism
Durgia, Harsh, Nicholas, Adeline K, Schoenmakers, Erik, Dickens, Jennifer A, Halanaik, Dhanapathi, Sahoo, Jayaprakash, Kamalanathan, Sadishkumar, Schoenmakers, Nadia
Published in Thyroid (New York, N.Y.) (01.02.2022)
Published in Thyroid (New York, N.Y.) (01.02.2022)
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A primary microcephaly protein complex forms a ring around parental centrioles
Woods, C Geoffrey, Gergely, Fanni, Sir, Joo-Hee, Barr, Alexis R, Nicholas, Adeline K, Carvalho, Ofelia P, Khurshid, Maryam, Sossick, Alex, Reichelt, Stefanie, D'Santos, Clive
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom
Peters, Catherine, Nicholas, Adeline K., Schoenmakers, Erik, Lyons, Greta, Langham, Shirley, Serra, Eva G., Sebire, Neil J., Muzza, Marina, Fugazzola, Laura, Schoenmakers, Nadia
Published in Thyroid (New York, N.Y.) (01.06.2019)
Published in Thyroid (New York, N.Y.) (01.06.2019)
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Journal Article
WDR62 is associated with the spindle pole and is mutated in human microcephaly
Abramowicz, Marc, Woods, C Geoffrey, Nicholas, Adeline K, Khurshid, Maryam, Désir, Julie, Carvalho, Ofélia P, Cox, James J, Thornton, Gemma, Kausar, Rizwana, Ansar, Muhammad, Ahmad, Wasim, Verloes, Alain, Passemard, Sandrine, Misson, Jean-Paul, Lindsay, Susan, Gergely, Fanni, Dobyns, William B, Roberts, Emma
Published in Nature genetics (01.11.2010)
Published in Nature genetics (01.11.2010)
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Journal Article
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations
Emery, Edward C, Habib, Abdella M, Cox, James J, Nicholas, Adeline K, Gribble, Fiona M, Woods, C Geoffrey, Reimann, Frank
Published in The Journal of neuroscience (20.05.2015)
Published in The Journal of neuroscience (20.05.2015)
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Journal Article
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ
Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V. Krishna K, Anderson, Carl A, Schoenmakers, Nadia
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
Published in The journal of clinical endocrinology and metabolism (01.12.2016)
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Journal Article
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations
Cox, James J, Sheynin, Jony, Shorer, Zamir, Reimann, Frank, Nicholas, Adeline K, Zubovic, Lorena, Baralle, Marco, Wraige, Elizabeth, Manor, Esther, Levy, Jacov, Woods, C. Geoffery, Parvari, Ruti
Published in Human mutation (01.09.2010)
Published in Human mutation (01.09.2010)
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Journal Article
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy
Carvalho, Ofélia P, Thornton, Gemma K, Hertecant, Joseph, Houlden, Henry, Nicholas, Adeline K, Cox, James J, Rielly, Mary, Al-Gazali, Lihadh, Woods, C Geoffrey
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
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Journal Article
Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation
Vasudevan, Pradeep, Powell, Corrina, Nicholas, Adeline K, Scudamore, Ian, Greening, James, Park, Soo-Mi, Schoenmakers, Nadia
Published in Endocrinology, diabetes & metabolism case reports (07.06.2017)
Published in Endocrinology, diabetes & metabolism case reports (07.06.2017)
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Journal Article
Absence of pain with hyperhidrosis: A new syndrome where vascular afferents may mediate cutaneous sensation
Bowsher, David, Geoffrey Woods, C., Nicholas, Adeline K., Carvalho, Ofelia M., Haggett, Carol E., Tedman, Brian, Mackenzie, James M., Crooks, Daniel, Mahmood, Nasir, Aidan Twomey, J., Hann, Samantha, Jones, Dilwyn, Wymer, James P., Albrecht, Phillip J., Argoff, Charles E., Rice, Frank L.
Published in Pain (Amsterdam) (15.12.2009)
Published in Pain (Amsterdam) (15.12.2009)
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