Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 ( SMABF2 )

Autor: Marcia C. Willing, Sonika Dahiya, Jennifer A. Wambach, Krista Bluske, Daniel J. Wegner, Ryan J. Taft, Marwan Shinawi, Frances V. White, William McAllister, F S Cole, Amanda Buchanan, Dustin Baldridge, Robert C. Bucelli, Kristen K Rosano

Publikováno v: American Journal of Medical Genetics Part A. 185:2190-2197

Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from bial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61bc1f195d368989723bc4a7426fe9f6
https://doi.org/10.1002/ajmg.a.62219

Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses

Autor: Matthew L. Tedder, Dustin Baldridge, Kathleen Sisco, F S Cole, Jorge L. Granadillo, Bekim Sadikovic, Marcia C. Willing, Alexander J. Paul, Daniel J. Wegner, Jennifer A. Wambach

Publikováno v: Am J Med Genet A
Paediatrics Publications

Chromodomain helicase DNA-binding protein 7 (CHD7) pathogenic variants are identified in more than 90% of infants and children with CHARGE (Coloboma of the iris, retina, and/or optic disk; congenital Heart defects, choanal Atresia, Retardation of gro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b121b7d329a62e63aa209ea849124a9
https://europepmc.org/articles/PMC8218330/

Neuroimaging of Fetal Infection

Autor: C Marchal, D D McIntire, M Massoud, F Lazzini, N Linder, D Levine, C Gutiérrez-Márquez, L A Bailão, G L Hedlund, G C Meyberg-Solomayer, G G Colleoni, A Benachi, T R de Haan, L Quartulli, P M Jayaram, G F Eich, L W Averill, A Vorsselmans, F Bonilla-Musoles, A Vossough, M S van der Knaap, L Geerts, F Dhombres, D Kidron, M L Watt-Morse, F Peyron, J Pardo, J Nijman, J Amir, J E Sanín-Blair, N P Deasy, H Werner, J Atias, M de Santis, M T Whitehead, P T Levy, P Tomà, M Vouga, S Friszer, A Buenerd, B Tatli, G Malm, G Duarte, B Weisz, H Buxmann, G Hartnoll, A Perolo, P Bonasoni, S Stagno, B Tseng, Y J Crow, R Biancheri, T Lerman-Sagie, K Dewar, M A Verboon-Maciolek, D O'Rourke, O Picone, M A al Thagafi, J T Parer, M L Rossi, S Lipitz, M Mohlo, F Brunelle, L Schuler-Faccini, J L Anderson, O A Glenn, R Wright, D Lev, M Uriel, D M Twickler, L R Pistorius, M Wien, L M Hill, F Piersigilli, B Maugey-Laulom, R F Pass, C E Lindan, A Beke, Y Murakami, H Gunardi, B Guerra, R Salmaso, E Martin, V Wiwanitkit, G Sournies, D Warren, A Yuksel, M L Kulkarni, G R Nagy, Y Mogami, K Latkóczy, A Carletti, J C Rodriguez Leonel, Y Suzuki, A Zerem, N Teissier, Y Yinon, G Cloud, L S de Vries, C A Alford, I Simon, B Suarez, P Mezzano, P Pinaud, C Soussotte, A A Karparov, M C Maberry, P Soares de Oliveira-Szejnfeld, G M Magnano, A L White, T Drier de Laforte, A G Cordier, M Besnard, S al Shahwan, P W Callen, M D King, F H Carvalho, L J Salomon, Y Akyol, A S Melo, D Nadal, M I Steinlin, E Araujo Júnior, M L Daniel, C Cluver, C R Wake, K Yanagihara, M Nishioka, I H Kalelioglu, Ashley J. Robinson, A Rossi, E Done, C Auriti, D Pugash, Y Toribe, J Gunkel, A C Regenstein, W K Oliveira, P Maurice, J F Bale, F Gay-Andrieu, N M Mehta, K B Fowler, G M Schauer, L A Ramenghi, L A Bok, M M Cannie, C Parazzini, R Has, S A Laifer, A Righini, A J Barkovich, P Sonigo, M Epelman, M Feldmann, M Tamarkin, A M Kulkarni, Y Ville, E J Boltshauser, S Domizio, A Yildirim, B Feldman, W Bonacci, S Sigaudy, S Ryan, N Farkas, G A Vorona, J Garcia-Flores, E Schiff, E Cristina, C Y Ho, A U Stücker, S N Bryant, S Parisot, V V Kandula, J M Jarosz, B J Freij, C Gire, J M Jouannic, K B Leonard, P S Dimova, G J Demmler, N G Osborne, L Sanapo, L Guibaud, M R De Gasperis, P Guillemette-Artur, L Ben-Sira, S Baskar, T C Cox, C P Dunham, T Matsuishi, M Recio, S M Lanni, E M Korhonen, B Joob, M M Amorim, Y Dogan, G V França, M Motobayashi, L Tychsen, P G Barth, D Baud, C L Ong, P Marty, T C Bailão, M Nishikawa, D Carles, L Bradley, P Droulle, N Girard, D M Money, S Stivaros, M W Rac, D A Herrera, W J Britt, M Severino, J H Livingston, I Muller-Hansen, N Zahalka, M C Rizzi, M. Ashraf Ederies, E H Gröndahl, M Cagneaux, T J Boll, J Pialat, J R Marquis, C Garel, F S Cole, R Franco, J Perlman, J Attia-Sobol, N Oosterom, M Leyder, J L Sever, D Prayer, T Fehm, D Eyrolle-Guignot, R S Aguiar, D J Bonthius, G Malinger, M Tepperberg-Dikawa, F Groenendaal, G Serra, H Odendaal, A Reitter, G Seganti, G Tonni, C Doneda, C Hoffmann, L Ben Sira, C D Smyser, F Jacquemard, Y Yamashita, G Sabatino, G Simonazzi, A D Bardeguez, R Meyer, J P Crino, E Hughes, J Courtier, R W Driggers, Y Inaba, F Diard, R Devlieger, I Lewensohn-Fuchs, G Hendson, M L Engman, J Smal, G Benoist

Publikováno v: Journal of Pediatric Neurology. 15:192-200

Infection during pregnancy is common and the developing fetal brain is vulnerable to vertical transmission due to immaturity of the fetal immune system. Infection is a major cause of multiple organ abnormalities, including the neuraxis, due to the ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::11f68a270fe23e58d18199f4d78964c1
https://doi.org/10.1055/s-0037-1604219

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

Autor: Aaron Hamvas, Shaoke Chen, Qun Yuan Zhang, F S Cole, Hillary B. Heins, Yu Jun Chen, Daniel J. Wegner, Jennifer A. Wambach, Kelcey DePass

Publikováno v: World Journal of Pediatrics. 12:190-195

Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown. We obtained blood spots from the Guangxi Neonatal Screening Center in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e410da4e61e4ebdae2239592819bf6fa
https://doi.org/10.1007/s12519-015-0047-x

Increased risk for respiratory distress among white, male, late preterm and term infants

Autor: Michael W. Kuzniewicz, J S Anadkat, Aaron Hamvas, B P Chaudhari, F S Cole

Publikováno v: Journal of Perinatology

Objective: To determine whether race/ethnicity and sex independently increase risk of respiratory distress syndrome (RDS) in late preterm and term infants. Study Design: Using a cohort design, we studied the risk of RDS associated with race/ethnicity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4cccd10a2aa680197d2b152a537aab6
https://doi.org/10.1038/jp.2011.191