Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao
Published in American journal of human genetics (02.07.2020)
Published in American journal of human genetics (02.07.2020)
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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
May, Halie J., Jeong, Jaehoon, Revah-Politi, Anya, Cohen, Julie S., Chassevent, Anna, Baptista, Julia, Baugh, Evan H., Bier, Louise, Bottani, Armand, Te Carminho A. Rodrigues, Maria resa, Conlon, Charles, Fluss, Joel, Guipponi, Michel, Kim, Chong Ae, Matsumoto, Naomichi, Person, Richard, Primiano, Michelle, Rankin, Julia, Shinawi, Marwan, Smith-Hicks, Constance, Telegrafi, Aida, Toy, Samantha, Uchiyama, Yuri, Aggarwal, Vimla, Goldstein, David B., Roche, Katherine W., Anyane-Yeboa, Kwame
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother
Lambert, Nelle, Dauve, Corinne, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico, Sloan-Béna, Frédérique, Gimelli, Stefania, Blouin, Jean-Louis, Guipponi, Michel, Bottani, Armand, Antonarakis, Stylianos E, Kosel, Markus M, Fluss, Joel, Paoloni-Giacobino, Ariane
Published in Journal of human genetics (01.07.2018)
Published in Journal of human genetics (01.07.2018)
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Clinicopathologic and Molecular Analysis of a Choroidal Pigmented Schwannoma in the Context of a PTEN Hamartoma Tumor Syndrome
Venturini, Giulia, MSc, Moulin, Alexandre P., MD, Deprez, Manuel, MD, PhD, Uffer, Sylvie, MD, Bottani, Armand, MD, Zografos, Leonidas, MD, Rivolta, Carlo, PhD
Published in Ophthalmology (Rochester, Minn.) (01.04.2012)
Published in Ophthalmology (Rochester, Minn.) (01.04.2012)
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Web Resource
Nicolaides-Baraitser syndrome: Delineation of the phenotype
Sousa, Sérgio B., Abdul-Rahman, Omar A., Bottani, Armand, Cormier-Daire, Valérie, Fryer, Alan, Gillessen-Kaesbach, Gabriele, Horn, Denise, Josifova, Dragana, Kuechler, Alma, Lees, Melissa, MacDermot, Kay, Magee, Alex, Morice-Picard, Fanny, Rosser, Elizabeth, Sarkar, Ajoy, Shannon, Nora, Stolte-Dijkstra, Irene, Verloes, Alain, Wakeling, Emma, Wilson, Louise, Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
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Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
Calinescu-Tuleasca, Ana-Maria, Bottani, Armand, Rougemont, Anne-Laure, Birraux, Jacques, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Girardin, Eric, Belli, Dominique, Wildhaber, Barbara E.
Published in European journal of pediatrics (01.07.2013)
Published in European journal of pediatrics (01.07.2013)
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
Dayer, Alexandre G., Bottani, Armand, Bouchardy, Isabelle, Fluss, Joel, Antonarakis, Stylianos E., Haenggeli, Charles-Antoine, Morris, Michael A.
Published in Brain & development (Tokyo. 1979) (2007)
Published in Brain & development (Tokyo. 1979) (2007)
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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
Lalioti, Maria D, Scott, Hamish S, Buresi, Catherine, Rossier, Colette, Bottani, Armand, Morris, Michael A, Malafosse, Alain, Antonarakis, Stylianos E
Published in Nature (London) (24.04.1997)
Published in Nature (London) (24.04.1997)
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Prenatal diagnostic indicators of paternal uniparental disomy 14
Curtis, Logos, Antonelli, Eric, Vial, Yvan, Rimensberger, Peter, Le Merrer, Martine, Hinard, Christine, Bottani, Armand, Fokstuen, Siv
Published in Prenatal diagnosis (01.08.2006)
Published in Prenatal diagnosis (01.08.2006)
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Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
Borozdin, Wiktor, Steinmann, Katharina, Albrecht, Beate, Bottani, Armand, Devriendt, Koenraad, Leipoldt, Michael, Kohlhase, Jürgen
Published in Human mutation (01.02.2006)
Published in Human mutation (01.02.2006)
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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes Alexander, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
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Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Vaclavik, Veronika, Navarro, Aurelie, Jacot-Guillarmod, Alain, Bottani, Armand, Sun, Young Joo, Franco, Joel A., Mahajan, Vinit B., Smirnov, Vasily, Bouvet-Drumare, Isabelle
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2024)
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2024)
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
JACQUEMONT, Sébastien, REYMOND, Alexandre, THORLEIFSSON, Gudmar, BELFIORE, Marco, BOUQUILLON, Sonia, CAMPION, Dominique, DE LEEUW, Nicole, DE VRIES, Bert B. A, ESKO, Tõnu, FERNANDEZ, Bridget A, FERNANDEZ-ARANDA, Fernando, FERNANDEZ-REAL, José Manuel, ZUFFEREY, Flore, GRATACOS, Mònica, GUILMATRE, Audrey, HOYER, Juliane, JARVELIN, Marjo-Riitta, FRANK KOOY, R, KURG, Ants, LE CAIGNEC, Cédric, MÄNNIK, Katrin, PLATT, Orah S, SANLAVILLE, Damien, HAREWOOD, Louise, VAN HAELST, Mieke M, VILLATORO GOMEZ, Sergi, WALHA, Faida, WU, Bai-Lin, YU, Yongguo, ABOURA, Azzedine, ADDOR, Marie-Claude, ALEMBIK, Yves, ANTONARAKIS, Stylianos E, ARVEILER, Benoît, WALTERS, Robin G, BARTH, Magalie, BEDNAREK, Nathalie, BENA, Frédérique, BERGMANN, Sven, BERI, Mylène, BERNARDINI, Laura, BLAUMEISER, Bettina, BONNEAU, Dominique, BOTTANI, Armand, BOUTE, Odile, KUTALIK, Zoltán, BRUNNER, Han G, CAILLEY, Dorothee, CALLIER, Patrick, CHIESA, Jean, CHRAST, Jacqueline, COIN, Lachlan, COUTTON, Charles, CUISSET, Jean-Marie, CUVELLIER, Jean-Christophe, DAVID, Albert, MARTINET, Danielle, YIPING SHEN, VALSESIA, Armand, BECKMANN, Noam D
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Humbert, Jonathan, Salian, Smrithi, Makrythanasis, Periklis, Lemire, Gabrielle, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Alasiri, Rami, Bottani, Armand, Hanquinet, Sylviane, Beaver, Erin, Heeley, Jennifer, Smith, Ann C.M., Berger, Seth I., Antonarakis, Stylianos E., Yang, Xiang-Jiao, Côté, Jacques, Campeau, Philippe M.
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO
Skopkova, Martina, Hennig, Friederike, Shin, Byung‐Sik, Turner, Clesson E., Stanikova, Daniela, Brennerova, Katarina, Stanik, Juraj, Fischer, Ute, Henden, Lyndal, Müller, Ulrich, Steinberger, Daniela, Leshinsky‐Silver, Esther, Bottani, Armand, Kurdiova, Timea, Ukropec, Jozef, Nyitrayova, Olga, Kolnikova, Miriam, Klimes, Iwar, Borck, Guntram, Bahlo, Melanie, Haas, Stefan A., Kim, Joo‐Ran, Lotspeich‐Cole, Leda E., Gasperikova, Daniela, Dever, Thomas E., Kalscheuer, Vera M.
Published in Human mutation (01.04.2017)
Published in Human mutation (01.04.2017)
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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
Hamamy, Hanan, Antonarakis, Stylianos E, Cavalli-Sforza, Luigi Luca, Temtamy, Samia, Romeo, Giovanni, Kate, Leo P Ten, Bennett, Robin L, Shaw, Alison, Megarbane, Andre, van Duijn, Cornelia, Bathija, Heli, Fokstuen, Siv, Engel, Eric, Zlotogora, Joel, Dermitzakis, Emmanouil, Bottani, Armand, Dahoun, Sophie, Morris, Michael A, Arsenault, Steve, Aglan, Mona S, Ajaz, Mubasshir, Alkalamchi, Ayad, Alnaqeb, Dhekra, Alwasiyah, Mohamed K, Anwer, Nawfal, Awwad, Rawan, Bonnefin, Melissa, Corry, Peter, Gwanmesia, Lorraine, Karbani, Gulshan A, Mostafavi, Maryam, Pippucci, Tommaso, Ranza-Boscardin, Emmanuelle, Reversade, Bruno, Sharif, Saghira M, Teeuw, Marieke E, Bittles, Alan H
Published in Genetics in medicine (01.09.2011)
Published in Genetics in medicine (01.09.2011)
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Conference Proceeding
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Giannuzzi, Giuliana, Schmidt, Paul J., Porcu, Eleonora, Willemin, Gilles, Munson, Katherine M., Nuttle, Xander, Earl, Rachel, Chrast, Jacqueline, Hoekzema, Kendra, Risso, Davide, Männik, Katrin, De Nittis, Pasquelena, Baratz, Ethan D., Herault, Yann, Gao, Xiang, Philpott, Caroline C., Bernier, Raphael A., Kutalik, Zoltan, Fleming, Mark D., Eichler, Evan E., Reymond, Alexandre
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
Santoni, Federico A, Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E
Published in Genome research (01.02.2014)
Published in Genome research (01.02.2014)
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