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A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement
Schneider, Holm, Schweikl, Christine, Faschingbauer, Florian, Hadj-Rabia, Smail, Schneider, Pascal
Published in International journal of molecular sciences (12.04.2023)
Published in International journal of molecular sciences (12.04.2023)
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Autism traits in the RASopathies
Adviento, Brigid, Corbin, Iris L, Widjaja, Felicia, Desachy, Guillaume, Enrique, Nicole, Rosser, Tena, Risi, Susan, Marco, Elysa J, Hendren, Robert L, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A
Published in Journal of medical genetics (01.01.2014)
Published in Journal of medical genetics (01.01.2014)
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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
Serra, Gregorio, Felice, Sofia, Antona, Vincenzo, Di Pace, Maria Rita, Giuffrè, Mario, Piro, Ettore, Corsello, Giovanni
Published in Italian journal of pediatrics (04.05.2022)
Published in Italian journal of pediatrics (04.05.2022)
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WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)
Guazzarotti, L., Tadini, G., Mancini, G.E., Sani, I., Pisanelli, S., Galderisi, F., D'Auria, E., Secondi, R., Bottero, A., Zuccotti, G.V.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S.V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, Maria Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D., Trembath, Richard C.
Published in Circulation. Cardiovascular genetics (01.08.2015)
Published in Circulation. Cardiovascular genetics (01.08.2015)
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Genotype and phenotype spectrum of NRAS germline variants
Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
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Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K., Norton, Mary E., Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane, Porte, Florence
Published in Genes (06.01.2023)
Published in Genes (06.01.2023)
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Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
Petrof, Gabriela, Nanda, Arti, Howden, Jake, Takeichi, Takuya, McMillan, James R., Aristodemou, Sophia, Ozoemena, Linda, Liu, Lu, South, Andrew P., Pourreyron, Celine, Dafou, Dimitra, Proudfoot, Laura E., Al-Ajmi, Hejab, Akiyama, Masashi, McLean, W.H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up
Serra, Gregorio, Antona, Vincenzo, Giuffré, Mario, Li Pomi, Federica, Lo Scalzo, Lucia, Piro, Ettore, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (28.09.2021)
Published in Italian journal of pediatrics (28.09.2021)
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Novel mutations identified in patients with tooth agenesis by whole‐exome sequencing
Zhao, Kai, Lian, Meifei, Zou, Duohong, Huang, Wei, Zhou, Wenjie, Shen, Yihan, Wang, Feng, Wu, Yiqun
Published in Oral diseases (01.03.2019)
Published in Oral diseases (01.03.2019)
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Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker, Martin, Zenteno, Juan Carlos
Published in Molecular genetics & genomic medicine (01.05.2019)
Published in Molecular genetics & genomic medicine (01.05.2019)
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Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
Maier-Wohlfart, Sigrun, Aicher, Carmen, Willershausen, Ines, Peschel, Nicolai, Meißner, Udo, Gölz, Lina, Schneider, Holm
Published in Genes (15.11.2022)
Published in Genes (15.11.2022)
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Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies: A Description of a New Imaging Sign
Grodecki, Brian M, Potluri, Saipriya C, Olsen, Karl, Eldib, Amgad, Scanga, Hannah L, Pihlblad, Matthew S, Nischal, Ken K
Published in Ophthalmology retina (01.07.2024)
Published in Ophthalmology retina (01.07.2024)
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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome
Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
Sodero, G., Colonna, A. Turriziani, Purcaro, V., Onesimo, R., Zampino, G., Vento, G.
Published in Journal of neonatal-perinatal medicine (01.01.2023)
Published in Journal of neonatal-perinatal medicine (01.01.2023)
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N-acetylglucosamine modification in the lumen of the endoplasmic reticulum
Ogawa, Mitsutaka, Sawaguchi, Shogo, Furukawa, Koichi, Okajima, Tetsuya
Published in Biochimica et biophysica acta (01.06.2015)
Published in Biochimica et biophysica acta (01.06.2015)
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Inherited disorders of human Toll-like receptor signaling: immunological implications
Ku, Cheng-Lung, Yang, Kun, Bustamante, Jacinta, Puel, Anne, Von Bernuth, Horst, Santos, Orchidée Filipe, Lawrence, Tatiana, Chang, Huey-Hsuan, Al-Mousa, Hamoud, Picard, Capucine, Casanova, Jean-Laurent
Published in Immunological reviews (01.02.2005)
Published in Immunological reviews (01.02.2005)
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