Results 71 to 80 of about 291,425 (313)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Endometrial Stromal Sarcoma Presenting As Puberty Menorrhagia [PDF]

, 2005
Endometrial stromal sarcomas are rare uterine tumours usually seen in perimenopausal females. We report here a case of low grade malignant endometrial stromal sarcoma in an adolescent girl, presenting as puberty menorrhagia.
Prabhakaran Nair, Rema, Sebastian, Paul
core   +1 more source

Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand. [PDF]

, 2019
OBJECTIVE: The aim of this study was to describe growth during puberty in young people with vertically acquired HIV. DESIGN: Pooled data from 12 paediatric HIV cohorts in Europe and Thailand.
Abou-Rayyah, ACM, Aebi-Popp, K, Akarathum, N, Alfayate, S, Alvarez, C, Alvarez, S, An, PK, Anagnostopoulos, A, Ananpatharachai, P, Angel Roa, M, Angeles Munoz, M, Angulo, R, Anguvaa, L, Antoinette Frick, M, Antonio Couceiro, J, Apilanez, M, Asner, S, Attavinijtrakarn, P, Back, NKT, Badillo, K, Badolato, R, Bakker, Y, Baldi, F, Ball, C, Bamford, A, Bandi, S, Battegay, M, Baumann, M, Beceiro, J, Belfrage, E, Benson, C, Bergsma, D, Berkhout, B, Bernardi, S, Bernasconi, E, Bernatoniene, J, Bezemer, DO, Bezemer, M, Blake, E, Blazquez, D, Boni, J, Bont, LJ, Boucher, CAB, Braun, DL, Breton, R, Bridgwood, A, Bruzzese, E, Bucher, HC, Bunjongpak, S, Bustillo, M, Butler, K, Butler, K, Calavia, O, Callaghan, A, Calmy, A, Cavassini, M, Cellini, M, Chailoet, S, Christie, S, Ciuffi, A, Clapson, M, Clarke, DRL, Cliffe, L, Clough, S, Colino, E, Coll, M, Collado, P, Collins, IJ, Collins, IJ, Consolini, R, Conway, S, Cook, C, Cornelissen, MTE, Coupland, U, Crichton, S, Cristiano, L, Daniels, J, Dapena, M, De Boer, CG, De Groot, L, De Groot-de Jonge, H, De Jong, A, De Martino, M, De Miguel, E, De Tejada, BM, De Tejada, MB, Decker, L, Delforge, M, Di Biagio, A, Dobson, D, Dodi, I, Doerholt, K, Doerholt, K, Doherty, C, Dollenmaier, G, Dona, D, Doroba, M, Dowie, M, Duenas, J, Duncan, K, Duppenthaler, A, Egger, M, Eisenhut, M, El Berkaoui, A, Elzi, L, Ene, L, Erba, P, Escosa, L, Esposito, S, Evans, J, Fairbrother, K, Falcon, L, Faldella, G, Faust, SN, Fehr, J, Fellay, J, Fernandez Mc Phee, C, Fidler, K, Flood, T, Flynn, J, Fortuny, C, Foster, C, Fraaij, PLA, Francini, K, Francis, K, Freeman, A, Freeman, H, Furrer, H, Fux, CA, Gabiano, C, Galli, L, Gamell, A, Garazzino, S, Garcia Hortelano, M, Garcia, L, Garrote, E, Garzon, M, Gavilan, C, Geelen, SPM, Geerlinks, J, Genovese, O, Giacomet, V, Giaquinto, C, Gibb, DM, Gloria Andres, A, Goetghebuer, T, Gomez Sirvent, J, Goodall, R, Gordon, A, Grande, A, Grawe, C, Greenberg, M, Grivell, S, Guerrero, C, Guillen, S, Gunthard, HF, Gurtin, D, Haerry, D, Hagas, V, Hague, R, Hainaut, M, Hancock, J, Hanpinitsak, S, Hansudewechakul, R, Harper, L, Harrison, I, Hasse, B, Hawkins, S, Henriet, SS, Herranz, M, Hillebregt, M, Hirsch, HH, Hoffmann, M, Hongsiriwon, S, Hosli, I, Huber, M, Ibberson, L, Isabel Gonzalez-Tome, M, Isabel Menasalvas, A, Isabel Piqueras, A, Jaisieng, N, Jareno, E, Jimenez de Ory, S, Jones, L, Jose Mellado, M, Jose Munoz, M, Jose Romero, F, Jourdain, G, Judd, A, Jurriaans, S, Kahlert, CR, Kaiser, L, Kamonpakorn, N, Kanjanavanit, S, Karnchanamayul, W, Kawilapat, S, Keiser, O, Kenny, J, Klein, N, Klein, N, Klimkait, T, Knoester, M, Koopmans, MPG, Koops, J, Kottanattu, L, Kouyos, RD, Kovari, H, Krikajornkitti, S, Kruijne, E, Kuekou, HT, Kwanchaipanich, R, Labutina, S, Larovere, D, Lawtongkum, W, Layangool, P, Le Coeur, S, Le Prevost, M, Lecompte, TM, Ledergerber, B, Lees, Y, Lendinez, F, Lertpienthum, N, Letting, G, Lillo, M, Lipreri, R, Lisi, C, Lo Vecchio, A, Lodewijk, C, Lopez, N, Losada, B, Lucas, E, Lucksanapisitkul, P, Luis Santos, J, Luisa Navarro, M, Lyall, H, Lyall, H, Maccabruni, A, Manyika, F, Marczynska, M, Martinetti, G, Martinez, J, Marugan, V, Marzolini, C, Mateo, M, Mayol, L, Mazza, A, McMaster, P, McMaster, P, Meijering, R, Mekmullica, J, Mendez, M, Menson, E, Metzner, KJ, Miloenko, M, Monrose, C, Montagnani, C, Montesdeoca, A, Montesinos, E, Moreno, D, Mueller, N, Munjishvili, L, Mur, A, Murau, F, Murphy, PMC, Na-Rajsima, S, Nanta, S, Nantarukchaikul, M, Naratee, N, Nauta, N, Naver, L, Neth, O, Ngampiyaskul, C, Nicca, D, Niesters, HGM, Noguera, A, Noguera-Julian, A, Nsangi, E, Ochoa, C, Offerman, B, Okhonskaia, L, Oldakowska, A, Olmeo, P, Paioni, P, Pajkrt, D, Paling, E, Pantaleo, G, Pas, SD, Patrizia, O, Peeck, B, Pellegatta, A, Percival, E, Perez, A, Perez, C, Perez-Hoyos, S, Perreau, M, Peters, H, Phanomcheong, S, Pickering, A, Pineda, V, Pocheville, I, Pokorska-Spiewak, M, Polli, C, Pope, S, Popielska, J, Potchalongsin, S, Price, V, Prieto, L, Prime, K, Prime, K, Puangsombat, A, Raethke, M, Rahamat-Langendoen, J, Rampon, O, Rauch, A, Ree, C, Regtop, R, Reiss, P, Riordan, A, Riordan, A, Rius, N, Rojo, P, Roman, V, Romano, A, Rovira, N, Rudin, C, Ruggeri, M, Ruijs, Y, Ruiz, B, Rutkens, T, Saavedra, J, Sainz, T, Saipanya, A, Salvini, F, Santa, A, Santos, M, Scherpbier, H, Scherpbier, HJ, Scherrer, AU, Schinkel, CJ, Schmid, P, Schnorr, P, Scholvinck, EH, Schoorl, M, Schuurman, R, Seery, P, Segal, S, Segarra, I, Shackley, F, Shackley, F, Sharland, M, Sharpe, G, Shingadia, D, Shingadia, D, Sloper, K, Smit, C, Smit, C, Smyth, A, Soeria-Atmadja, S, Soler-Palacin, P, Southall, S, Speck, R, Spoulou, V, Srirojana, S, Stelma, FF, Stockle, M, Storey, S, Storey, S, Strik-Albers, R, Suaysod, R, Subramaniam, B, Suriyaboon, T, Tagliabue, C, Taramasso, L, Tarr, P, Techakunakorn, P, Terol, P, Than-in-at, K, Thanasiri, P, Theansavettrakul, S, Thompson, F, Thorne, C, Thrasyvoulou, L, Tomas Ramos, J, Tovo, PA, Trkola, A, Tudor-Williams, G, Tudor-Williams, G, Tuijn, E, Tuk, B, Turkova, A, Vallmanya, T, Van Aerde, K, Van de Flier, M, Van de Sande, L, Van den Akker, M, Van der Kelen, E, Van der Knaap, LC, Van der Meer, R, Van der Vliet, S, Van Kampen, JJA, Van Leer-Buter, CC, Van Looy, N, Van Rossum, AMC, Van Sighem, A, Veenenberg, L, Venturini, E, Verduyn-Lunel, F, Vermont, CL, Vernazza, P, Visser, EG, Voronin, E, Wagner, N, Walsh, A, Wanchaitanawong, V, Wandeler, G, Wannarit, P, Warachit, B, Watanayothin, S, Weber, R, Weijsenfeld, AM, Welch, S, Welch, S, Wensing, AMJ, Williams, B, Wisse, A, Wit, FWMN, Witte, EC, Wolfs, TFW, Wolthers, KC, Woudstra, T, Wyler, CA, Yannoulias, A, Yeadon, S, Yerly, S, Zaaijer, HL, Zaheri, S, Zawadka, K   +436 more
core   +4 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Application of PRECEDE PROCEED Model to Promote Lifestyle for Deaf andMute Girls AT Puberty [PDF]

Helwan International Journal for Nursing Research and Practice
Background: Puberty is an important period of deaf and mute life girls associated with marked physical, emotional and psychological changes. Aim of study: was to assessment the perception of pubertal deaf and mute girl’s regarding puberty and healthy ...
Manal Abd Elhalim
doaj   +1 more source

Examining the relationship between pubertal stage, adolescent health behaviours and stress [PDF]

, 2003
Background. This paper examines the associations between puberty and three important health behavlours (smoking, food intake and exercise) and explores whether these associations are mediated by puberty's relationship to stress and psychological ...
Cartwright, M, Jarvis, MJ, Simon, AE, Steggles, N, Wardle, J   +4 more
core   +1 more source

Arterial distensibility in adolescents: the influence of adiposity, the metabolic syndrome, and classic risk factors. [PDF]

, 2005
BACKGROUND: Atherosclerosis develops from childhood, but the determinants of this preclinical stage remain uncertain. We examined the relations of classic coronary risk factors, adiposity and its associated metabolic disturbances, to arterial ...
Cook, DG, Deanfield, JE, Donald, AE, Gilg, JA, Katterhorn, M, Oliver, C, Whincup, PH   +6 more
core   +1 more source

Nevus sebaceus with syringocystadenoma papilliferum, prurigo nodularis, apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma: case report and review of nevus sebaceus-associated conditions [PDF]

, 2020
Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms.
Basu, Pallavi, Calame, Antoanella, Cohen, Philip R, Erickson, Christof P   +3 more
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Working With Faith-Based Communities to Develop an Education Tool kit on Relationships, Sexuality, and Contraception [PDF]

, 2017
Communities disproportionately affected from higher rates of unplanned teen births are in need of sustainable approaches to prevention strategies. One approach is to build the capacity of faith-based communities (FBCs) to address the sexual health needs ...
Bell, Sheryl B, Edwards, Sharon, Freeny, Jamie, Johnson-Baker, Kimberly, Swain-Ogbonna, Honora I, Torres, Jennifer, Tortolero, Susan R.   +6 more
core   +2 more sources