Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia von 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.

Volltext

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism von 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

Volltext

Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia von 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.

Volltext

Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism von 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

Volltext

Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism von Ferlin, Alberto, Garolla, Andrea, Bettella, Andrea, Bartoloni, Lucia, Vinanzi, Cinzia, Roverato, Alberto, Foresta, Carlo

Volltext

DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia von 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

Volltext

The human sugar-phosphate/phosphate exchanger family SLC37 von Bartoloni, Lucia, Antonarakis, Stylianos E

Volltext

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 von 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.

Volltext

Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility von 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

Volltext

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile von 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

Volltext

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening von Castellani, Carlo, Picci, Luigi, Tridello, Gloria, Casati, Elia, Tamanini, Anna, Bartoloni, Lucia, Scarpa, Maurizio, Assael, Baroukh M.

Volltext

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism von 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

Volltext

DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects von 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

Volltext

Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease von Gallinaro, Lisa, Sartorello, Francesca, Pontara, Elena, Cattini, Maria Grazia, Bertomoro, Antonella, Bartoloni, Lucia, Pagnan, Antonio, Casonato, Alessandra

Volltext

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations von 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

Volltext

Genetic Abnormalities among Severely Oligospermic Men Who Are Candidates for Intracytoplasmic Sperm Injection von Foresta, Carlo, Garolla, Andrea, Bartoloni, Lucia, Bettella, Andrea, Ferlin, Alberto

Volltext

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile von Al-Jawahiri, Reem, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M, Semina, V. Elena, Lachlan, Katherine, Chandler, Kate, Wright, Thomas, 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, Ziegler Boris, Afenjar, Alexandra, Zweier, Christiane, Reis, Andre, Smol, Thomas, Tsurusaki, Yoshinori, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Freeth, Megan, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair

Volltext

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome von Schneider, Maude, Van der Linden, Martial, Glaser, Bronwyn, Rizzi, Eleonora, Dahoun, Sophie P, Hinard, Christine, Bartoloni, Lucia, Antonarakis, Stylianos E, Debbané, Martin, Eliez, Stephan

Volltext

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism von 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

Volltext

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism von 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, Frederic, 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, Tsai, Anne Chun-hui, 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

Volltext