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A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes MADD中的剪接位点变体影响胰腺 β 细胞和垂体促性腺激素的激素表达 Pulli, Kristiina; Saarimaki-Vire, Jonna; Ahonen, Pekka; Liu, Xiaonan; Ibrahim, Hazem; Chandra, Vikash; Santambrogio, Alice; Wang, Yafei; Vaaralahti, Kirsi; Iivonen, Anna-Pauliina; Kansakoski, Johanna; Tommiska, Johanna; Kemkem, Yasmine; Varjosalo, Markku; Vuoristo, Sanna; Andoniadou, Cynthia L.; Otonkoski, Timo; Raivio, Taneli 分享 收藏
Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing Hathaway, Julie; Cicerchia, Marcos; Tommiska, Johanna; Ahonen, Saija; Seppala, Eija; Gall, Kimberly; Scocchia, Alicia; Saarinen, Inka; Rantanen, Matias; Schleit, Jennifer; Kangas-Kontio, Tiia; Gentile, Massimiliano; Salmenpera, Pertteli; Paananen, Jussi; Myllykangas, Samuel; Koskenvuo, Juha 分享 收藏
Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes Scocchia, Alicia; Gall, Kimberly; Hathaway, Julie; Taylor, Archie; Huusko, Johanna; Bernal, Manuel; Kansakoski, Johanna; von Nandelstadh, Pernilla; Tommiska, Johanna; Saarinen, Inka; Rantanen, Matias; Schleit, Jennifer; Gentile, Massimiliano; Salmenpera, Pertteli; Paananen, Jussi; Myllykangas, Samuel; Koskenvuo, Juha 分享 收藏
Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease Hathaway, Julie; Cicerchia, Marcos; Tommiska, Johanna; Ahonen, Saija; Seppala, Eija; Scocchia, Alicia; Saarinen, Inka; Gall, Kimberly; Rantanen, Matias; Schleit, Jennifer; Kangas-Kontio, Tiia; Gentile, Massimiliano; Salmenpera, Pertteli; Paananen, Jussi; Myllykangas, Samuel; Koskenvuo, Juha 分享 收藏
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism Messina, Andrea; Pulli, Kristiina; Santini, Sara; Acierno, James; Kansakoski, Johanna; Cassatella, Daniele; Xu, Cheng; Casoni, Filippo; Malone, Samuel A.; Ternier, Gaetan; Conte, Daniele; Sidis, Yisrael; Tommiska, Johanna; Vaaralahti, Kirsi; Dwyer, Andrew; Gothilf, Yoav; Merlo, Giorgio R.; Santoni, Federico; Niederlander, Nicolas J.; Giacobini, Paolo; Raivio, Taneli; Pitteloud, Nelly 分享 收藏
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis Tommiska, Johanna; Kansakoski, Johanna; Skibsbye, Lasse; Vaaralahti, Kirsi; Liu, Xiaonan; Lodge, Emily J.; Tang, Chuyi; Yuan, Lei; Fagerholm, Rainer; Kanters, Jorgen K.; Lahermo, Paivi; Kaunisto, Mari; Keski-Filppula, Riikka; Vuoristo, Sanna; Pulli, Kristiina; Ebeling, Tapani; Valanne, Leena; Sankila, Eeva-Marja; Kivirikko, Sirpa; Laaperi, Mitja; Casoni, Filippo; Giacobini, Paolo; Phan-Hug, Franziska; Buki, Tal; Tena-Sempere, Manuel; Pitteloud, Nelly; Veijola, Riitta; Lipsanen-Nyman, Marita; Kaunisto, Kari; Mollard, Patrice; Andoniadou, Cynthia L.; Hirsch, Joel A.; Varjosalo, Markku; Jespersen, Thomas; Raivio, Taneli 分享 收藏
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene Kansakoski, Johanna; Jaaskelainen, Jarmo; Jaaskelainen, Tiina; Tommiska, Johanna; Saarinen, Lilli; Lehtonen, Rainer; Hautaniemi, Sampsa; Frilander, Mikko J.; Palvimo, Jorma J.; Toppari, Jorma; Raivio, Taneli 分享 收藏
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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations 先天性低促性腺激素性性腺功能减退伴手/足裂开畸形: 具有高频率FGFR1突变的临床实体 Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A.; Sykiotis, Gerasimos P.; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valerie; Lefebvre, Herve; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly 分享 收藏
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Hereditary myopathy with early respiratory failure: occurrence in various populations Palmio, Johanna; Evila, Anni; Chapon, Francoise; Tasca, Giorgio; Xiang, Fengqing; Bradvik, Bjorn; Eymard, Bruno; Echaniz-Laguna, Andoni; Laporte, Jocelyn; Karppa, Mikko; Mahjneh, Ibrahim; Quinlivan, Rosaline; Laforet, Pascal; Damian, Maxwell; Berardo, Andres; Taratuto, Ana Lia; Bueri, Jose Antonio; Tommiska, Johanna; Raivio, Taneli; Tuerk, Matthias; Goelitz, Philipp; Chevessier, Frederic; Sewry, Caroline; Norwood, Fiona; Hedberg, Carola; Schroeder, Rolf; Edstrom, Lars; Oldfors, Anders; Hackman, Peter; Udd, Bjarne 分享 收藏
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Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia Raivio, Taneli; Avbelj, Magdalena; McCabe, Mark J.; Romero, Christopher J.; Dwyer, Andrew A.; Tommiska, Johanna; Sykiotis, Gerasimos P.; Gregory, Louise C.; Diaczok, Daniel; Tziaferi, Vaitsa; Elting, Mariet W.; Padidela, Raja; Plummer, Lacey; Martin, Cecilia; Feng, Bihua; Zhang, Chengkang; Zhou, Qun-Yong; Chen, Huaibin; Mohammadi, Moosa; Quinton, Richard; Sidis, Yisrael; Radovick, Sally; Dattani, Mehul T.; Pitteloud, Nelly 分享 收藏
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