Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
Acierno, James S., Xu, Cheng, Papadakis, Georgios E., Niederländer, Nicolas J., Rademaker, Jesse D., Meylan, Jenny, Messina, Andrea, Kolesinska, Zofia, Quinton, Richard, Lang-Muritano, Mariarosaria, Bartholdi, Deborah, Halperin, Irene, De Geyter, Christian, Bouligand, Jérôme, Bartoloni, Lucia, Young, Jacques, Santoni, Federico A., Pitteloud, Nelly
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism
Cotellessa, Ludovica, Marelli, Federica, Duminuco, Paolo, Adamo, Michela, Papadakis, Georgios E, Bartoloni, Lucia, Sato, Naoko, Lang-Muritano, Mariarosaria, Troendle, Amineh, Dhillo, Waljit S, Morelli, Annamaria, Guarnieri, Giulia, Pitteloud, Nelly, Persani, Luca, Bonomi, Marco, Giacobini, Paolo, Vezzoli, Valeria
Published in JCI insight (08.03.2023)
Published in JCI insight (08.03.2023)
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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia
Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Eddie M. K. Chung, Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
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Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism
Ferlin, Alberto, Garolla, Andrea, Bettella, Andrea, Bartoloni, Lucia, Vinanzi, Cinzia, Roverato, Alberto, Foresta, Carlo
Published in European journal of endocrinology (01.03.2005)
Published in European journal of endocrinology (01.03.2005)
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Journal Article
DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia
Failly, Mike, Saitta, Alexandra, Muñoz, Analia, Falconnet, Emilie, Rossier, Colette, Santamaria, Francesca, de Santi, Maria Margherita, Lazor, Romain, DeLozier-Blanchet, Celia D., Bartoloni, Lucia, Blouin, Jean-Louis
Published in Respiration (01.01.2008)
Published in Respiration (01.01.2008)
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Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease
Gallinaro, Lisa, Sartorello, Francesca, Pontara, Elena, Cattini, Maria Grazia, Bertomoro, Antonella, Bartoloni, Lucia, Pagnan, Antonio, Casonato, Alessandra
Published in Thrombosis and haemostasis (01.12.2006)
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Published in Thrombosis and haemostasis (01.12.2006)
Journal Article
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Published in Nature communications (08.02.2017)
Published in Nature communications (08.02.2017)
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Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility
Göcz, Balázs, Rumpler, Éva, Sárvári, Miklós, Skrapits, Katalin, Takács, Szabolcs, Farkas, Imre, Csillag, Veronika, Trinh, Sarolta H, Bardóczi, Zsuzsanna, Ruska, Yvette, Solymosi, Norbert, Póliska, Szilárd, Szőke, Zsuzsanna, Bartoloni, Lucia, Zouaghi, Yassine, Messina, Andrea, Pitteloud, Nelly, Anderson, Ross C, Millar, Robert P, Quinton, Richard, Manchishi, Stephen M, Colledge, William H, Hrabovszky, Erik
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
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Cloning and Characterization of a Putative Human Glycerol 3-Phosphate Permease Gene (SLC37A1 or G3PP) on 21q22.3: Mutation Analysis in Two Candidate Phenotypes, DFNB10 and a Glycerol Kinase Deficiency
Bartoloni, Lucia, Wattenhofer, Marie, Kudoh, Jun, Berry, Asher, Shibuya, Kazunori, Kawasaki, Kazuhiko, Wang, Jun, Asakawa, Shuichi, Talior, Ilana, Bonne-Tamir, Batsheva, Rossier, Colette, Michaud, Joelle, McCabe, Edward R.B., Minoshima, Shinsei, Shimizu, Nobuyoshi, Scott, Hamish S., Antonarakis, Stylianos E.
Published in Genomics (San Diego, Calif.) (01.12.2000)
Published in Genomics (San Diego, Calif.) (01.12.2000)
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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K, Hernan, Rebecca, Alkuraya, Fowzan S, Alsulaiman, Ahood, Al-Muhaizea, Mohammad A, Lesca, Gaetan, Pons, Linda, Labalme, Audrey, Laux, Linda, Bryant, Emily, Brown, Natasha J, Savva, Elena, Ayres, Samantha, Eratne, Dhamidhu, Peeters, Hilde, Bilan, Frédéric, Letienne-Cejudo, Lucile, Gilbert-Dussardier, Brigitte, Ruiz-Arana, Inge-Lore, Merlini, Jenny Meylan, Boizot, Alexia, Bartoloni, Lucia, Santoni, Federico, Karlowicz, Danielle, McDonald, Marie, Wu, Huidan, Hu, Zhengmao, Chen, Guodong, Ou, Jianjun, Brasch-Andersen, Charlotte, Fagerberg, Christina R, Dreyer, Inken, Chun-Hui Tsai, Anne, Slegesky, Valerie, McGee, Rose B, Daniels, Brina, Sellars, Elizabeth A, Carpenter, Lori A, Schaefer, Bradley, Sacoto, Maria J Guillen, Begtrup, Amber, Schnur, Rhonda E, Punj, Sumit, Wentzensen, Ingrid M, Rhodes, Lindsay, Pan, Qian, Bernier, Raphael A, Chen, Chao, Eichler, Evan E, Xia, Kun
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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Journal Article
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Al-Jawahiri, Reem, Foroutan, Aidin, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, Elena V., Nickerson, Deborah, Bamshad, Michael, Leal, Suzanne, Lachlan, Katherine, Chandler, Kate, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Boris, Afenjar, Alexandra, Zweier, Christiane, Smol, Thomas, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., FionaMaleady-Crowe, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pullinger, John, Rendon, Augusto, TimRogers, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Williams, Eleanor, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
Hornef, Nada, Olbrich, Heike, Horvath, Judit, Zariwala, Maimoona A, Fliegauf, Manfred, Loges, Niki Tomas, Wildhaber, Johannes, Noone, Peadar G, Kennedy, Marcus, Antonarakis, Stylianos E, Blouin, Jean-Louis, Bartoloni, Lucia, Nusslein, Thomas, Ahrens, Peter, Griese, Matthias, Kuhl, Heiner, Sudbrak, Ralf, Knowles, Michael R, Reinhardt, Richard, Omran, Heymut
Published in American journal of respiratory and critical care medicine (15.07.2006)
Published in American journal of respiratory and critical care medicine (15.07.2006)
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Journal Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
Schwabe, Georg C, Hoffmann, Katrin, Loges, Niki Tomas, Birker, Daniel, Rossier, Colette, de Santi, Margherita M, Olbrich, Heike, Fliegauf, Manfred, Failly, Mike, Liebers, Uta, Collura, Mirella, Gaedicke, Gerhard, Mundlos, Stefan, Wahn, Ulrich, Blouin, Jean-Louis, Niggemann, Bodo, Omran, Heymut, Antonarakis, Stylianos E, Bartoloni, Lucia
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome
Schneider, Maude, Van der Linden, Martial, Glaser, Bronwyn, Rizzi, Eleonora, Dahoun, Sophie P, Hinard, Christine, Bartoloni, Lucia, Antonarakis, Stylianos E, Debbané, Martin, Eliez, Stephan
Published in Psychiatry research (30.04.2012)
Published in Psychiatry research (30.04.2012)
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Genetic Abnormalities among Severely Oligospermic Men Who Are Candidates for Intracytoplasmic Sperm Injection
Foresta, Carlo, Garolla, Andrea, Bartoloni, Lucia, Bettella, Andrea, Ferlin, Alberto
Published in The journal of clinical endocrinology and metabolism (01.01.2005)
Published in The journal of clinical endocrinology and metabolism (01.01.2005)
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Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD
Lucas, Jane S., Adam, Elizabeth C., Goggin, Patricia M., Jackson, Claire L., Powles-Glover, Nicola, Patel, Saloni H, Humphreys, James, Fray, Martin D., Falconnet, Emilie, Blouin, Jean-Louis, Cheeseman, Michael T., Bartoloni, Lucia, Norris, Dominic P., Lackie, Peter M.
Published in Human mutation (01.03.2012)
Published in Human mutation (01.03.2012)
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The INSL3-LGR8/GREAT Ligand-Receptor Pair in Human Cryptorchidism
Ferlin, Alberto, Simonato, Mauro, Bartoloni, Lucia, Rizzo, Giorgia, Bettella, Andrea, Dottorini, Tania, Dallapiccola, Bruno, Foresta, Carlo
Published in The journal of clinical endocrinology and metabolism (01.09.2003)
Published in The journal of clinical endocrinology and metabolism (01.09.2003)
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