Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

Autor: Marques, P, Caimari, F, Hernández-Ramírez, LC, Collier, D, Iacovazzo, D, Ronaldson, A, Magid, K, Lim, CT, Stals, K, Ellard, S, Grossman, AB, Korbonits, M, Abraham, P, Aflorei, E, Agha, A, Ahlquist, J, Akker, SA, Alexandraki, K, Alföldi, S, Anselmo, J, Arlt, W, Atkinson, B, Aulinas-Masó, A, Aylwin, SJ, Baborie, A, Backeljauw, PF, Badiu, C, Baldeweg, S, Ball, S, Bano, G, Barkan, A, Barton, J, Barwell, J, Bates, P, Bernal-González, C, Besser, M, Bevan, JS, Bickerton, A, Blair, J, Bolanowski, M, Bouloux, P, Bradley, L, Bradley, K, Brain, C, Brooke, A, Brown, R, Buchfelder, M, Burren, C, Cakir, M, Canham, N, Capraro, J, Carroll, P, Carter, P, Carty, D, Cavlan, D, Chahal, HS, Cheetham, T, Chentli, F, Choong, C, Christ-Crain, M, Chung, T-T, Clayton, P, Clayton, RN, Cohen, M, Courtney, H, Cove, D, Crowne, E, Cuthbertson, D, Dal, J, Dalantaeva, N, Damjanovic, S, Daousi, C, Darzy, K, Dattani, M, Davies, M, Davies, J, Davis, J, de Castro, M, de Marinis, L, Deal, C, Dénes, J, Dimitri, P, Dorward, N, Dow, G, Drake, W, Druce, M, Drummond, J, Dutta, P, Dzeranova, L, Edén-Engström, B, Eeles, R, Elfving, M, Ellis, K, Elston, M, Emmerson, L, Ezzat, S, Fersht, N, Fica, S, Fischli, S, Fleseriu, M, Forsythe, E, Foulkes, W, Freda, P, Friedman, T, Gadelha, M, Gainsborough, M, Gallacher, S, Gallego, P, Gan, H-W, Georgescu, C, Gevers, E, Gilkes, C, Glynn, N, Goldman, JE, Goldstone, AP, Góth, M, Green, A, Greenhalgh, L, Grieve, J, Griz, L, Guitelman, M, Gürlek, A, Gurnell, M, Hamblin, PS, Hana, V, Harding, P, Hay, E, Hilton, DA, Ho, W, Hong, G, Horváth, K, Howell, S, Howlett, TA, Höybye, C, Hunter, S, Idampitiya, C, Igaz, P, Imran, A, Inder, WJ, Iwata, T, Izatt, L, Jagadeesh, S, Johnston, C, Jose, B, Kaltsas, G, Kaplan, F, Karavitaki, N, Kastelan, D, Katz, M, Kearney, T, Kershaw, M, Khoo, B, Kiraly-Borri, C, Knispelis, R, Kovács, GL, Kumar, A, Kumar, AV, Kun, IZ, Kyriaku, A, Lambrescu, I, Lampe, AK, Laws, ER, Lebek-Szatanska, A, Lechan, RM, Leese, G, Levy, A, Levy, MJ, Lewandowski, K, Lin, E, Lo, J, Lyons, C, Maartens, N, Maghnie, M, Makaya, T, Marcus, H, Niedziela, M, Martin, N, Matsuno, A, McGowan, B, McQuaid, SE, Medic-Stojanoska, M, Mendoza, N, Mercado-Atri, M, Mettananda, S, Mezősi, E, Miljic, D, Miller, KK, Modenesi, S, Molitch, ME, Monson, J, Morris, DG, Morrison, PJ, Mosterman, B, Munir, A, Murray, RD, Musat, M, Musolino, N, Nachtigall, L, Nagi, D, Nair, R, Nelson, R, Newell-Price, J, Nikookam, K, Ogilivie, A, Orme, SM, O´Weickert, M, Pal, A, Pascanu, I, Patócs, A, Patterson, C, Pearce, SH, Giraldi, FP, Penney, L, Perez-Rivas, LG, Pfeifer, M, Pirie, F, Poplawski, N, Popovic, V, Powell, M, Pullan, P, Quinton, R, Radian, S, Randeva, H, Reddy, N, Rees, A, Renals, V, de Oliveira, AR, Richardson, T, Rodd, C, Ross, RJM, Roncaroli, F, Ryan, F, Salvatori, R, Schöfl, C, Shears, D, Shotliff, K, Skelly, R, Snape, K, Soares, BS, Somasundaram, N, Spada, A, Sperber, J, Spoudeas, H, Stelmachowska-Banas, M, Stewart, S, Storr, HL, Strasburger, C, Street, ME, Suter-Widmer, I, Suthers, G, Swords, F, Syro, LV, Swantje, B, Sze, C, Taylor, J, Thakker, RV, Tham, E, Thompson, C, Thorner, MO, Tóth, M, Trainer, PJ, Tsagarakis, S, Twine, G, Tzanela, M, Vadasz, J, Vaidya, B, Vaks, V, Vance, ML, Verkauskiene, R, Von Esch, H, Wass, JA, Waterhouse, M, Webb, S, Weber, A, Wernig, F, Widell, H, Yamada, S, Yap, P, Yarman, S, Yeoh, P, Yoshimoto, K, Yuen, K, Zammitt, NN

Context\ud \ud Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs).\ud \ud \ud \ud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::f1f85350074e75207a795cc47210556b

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Autor: Evers, JMG, Laskowski, RA, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, JA, Kingston, H, Kini, U, Lampe, AK, Lim, D, Male, A, Naik, S, Parker, MJ, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, JM, DDD Study, Wright, CF

Publikováno v: Human Molecular Genetics
Evers, J M G, Laskowski, R A, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, J A, Kingston, H, Kini, U, Lampe, A K, Lim, D, Male, A, Naik, S, Parker, M J, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, J M, The DDD Study & Wright, C F 2017, ' Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders ', Human Molecular Genetics, vol. 26, no. 3, pp. 519-526 . https://doi.org/10.1093/hmg/ddw409

Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67da18768fd45722d73b13bfa4f3ab2
http://europepmc.org/articles/PMC5409128

A short-sighted approach to high myopia-not just an eye problem.

Autor: Burgess FR; Department of Ophthalmology, School of Medicine, University of St Andrews; Princess Alexandra Eye Pavilion, Edinburgh. Electronic address: frb2@st-andrews.ac.uk., Carroll N; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh., Young SL; Princess Alexandra Eye Pavilion, Edinburgh., Schmoll C; Princess Alexandra Eye Pavilion, Edinburgh., Lampe AK; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh., Chan J; Princess Alexandra Eye Pavilion, Edinburgh.

Publikováno v: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2021 Aug; Vol. 25 (4), pp. 247-248. Date of Electronic Publication: 2021 Jun 22.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Autor: Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, AM, Bengani, H, Chan, CY, Kayserili, H, Avci, S, Hennekam, RC, Lampe, AK, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, MJ, Cook, JA, Splitt, M, Fisher, RB, Fryer, A, Magee, AC, Wilkie, A, Barnicoat, A, Brady, AF, Cooper, NS, Mercer, C, Deshpande, C, Bennett, CP, Pilz, DT, Ruddy, D, Cilliers, D, Johnson, DS, Josifova, D, Rosser, E, Thompson, EM, Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, KM, Cox, H, Firth, HV, Kingston, H, Wee, JS, Hurst, JA, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M, McEntagart, M, Davidson, R, Lynch, SA, Sisodiya, S, Mehta, SG, McKee, SA, Mohammed, S, Holden, S, Park, SM, Holder, SE, Harrison, V, McConnell, V, Lam, WK, Green, AJ, Donnai, D, Bitner-Glindzicz, M, Donnelly, DE, Nellåker, C, Taylor, MS, FitzPatrick, DR

Publikováno v: Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A M, Bengani, H, Chan, C Y, Kayserili, H, Avci, Ş, Hennekam, R C M, Lampe, A K, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M J, Cook, J A, Splitt, M, Fisher, R B, Fryer, A, Magee, A C, Wilkie, A, Barnicoat, A, Brady, A F, Cooper, N S, Mercer, C, Deshpande, C, Bennett, C P, Pilz, D T, Ruddy, D, Cilliers, D, Johnson, D S, Josifova, D, Rosser, E, Thompson, E M, Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, K M, Cox, H, Firth, H V, Kingston, H, Wee, J S, Hurst, J A, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M, McEntagart, M, Davidson, R, Lynch, S-A, Sisodiya, S, Mehta, S G, McKee, S A, Mohammed, S, Holden, S, Park, S-M, Holder, S E, Harrison, V, McConnell, V, Lam, W K, Green, A J, Donnai, D, Bitner-Glindzicz, M, Donnelly, D E, Nellåker, C, Taylor, M S & FitzPatrick, D R 2014, ' Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism ', Journal of Medical Genetics, vol. 51, no. 10, pp. 659-668 . https://doi.org/10.1136/jmedgenet-2014-102573
Journal of medical genetics, 51(10), 659-668. BMJ Publishing Group
Journal of Medical Genetics

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-functio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::22580a9aa8f6dc594c7b758b35b52be9
http://ora.ox.ac.uk/objects/uuid:57e64891-0efb-4ddd-a616-76cee1cd8b8d

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Autor: Vetrini F; Baylor Genetics, Houston, TX, 77021, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Suri M; Nottingham Genetics Service, Nottingham City Hospital, Nottingham, UK., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA., Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA., Holder S; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK., Zhu W; Baylor Genetics, Houston, TX, 77021, USA., Alaimo JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Graham B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Present address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Harris JM; Dell Children's Medical Group, Austin, TX, 78723, USA., Gibson JB; Dell Children's Medical Group, Austin, TX, 78723, USA., Pastore M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA., McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; and Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, 43205, USA., Komara M; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE., Al-Gazali L; Department of Pediatrics, College of Medicine & Health Sciences, United Arab University, Al Ain, UAE., Al Shamsi A; Department of Pediatrics, Tawam Hospital, Al-Ain, UAE., Fanning EA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA., Wierenga KJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.; Present address: Mayo Clinic Florida, Department of Clinical Genomics, Jacksonville, FL, 32224, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA., Ben-Neriah Z; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Cassuto H; The Hebrew University of Jerusalem, Jerusalem, Israel., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, 91120, Jerusalem, Israel., Holder JL Jr; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Seaver LH; Department of Pediatrics, University of Hawaii, Honolulu, HI, 96826, USA., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Mahida S; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA., Soul JS; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA., Marlatt M; Department of Neurology, Boston Children's Hospital, Boston, MA, 0211, USA., Matyakhina L; Gene DX, Gaithersburg, MD, 20877, USA., Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; and Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Gold JA; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Park SM; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK., Varghese V; All-Wales Medical Genetics Service, University Hospital of Wales, Cardiff, UK., Lampe AK; South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh, UK., Kumar A; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK., Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK., Holder-Espinasse M; South East Thames Regional Genetics Service, Guy's Hospital, London, UK., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Bernhard B; North West Thames Regional Genetics Service, 759 Northwick Park Hospital, London, UK., Blair E; Oxford Regional Genetics Service, Oxford University Hospitals, Oxford, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Elsea SH; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Bi W; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lalani S; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA., Xia F; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Yang Y; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Eng CM; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Baylor Genetics, Houston, TX, 77021, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA., Liu P; Baylor Genetics, Houston, TX, 77021, USA. pengfeil@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. pengfeil@bcm.edu.

Publikováno v: Genome medicine [Genome Med] 2019 Feb 28; Vol. 11 (1), pp. 12. Date of Electronic Publication: 2019 Feb 28.