DLG4-related synaptopathy: a new rare brain disorder

Autor: Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V.A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

Publikováno v: In Genetics in Medicine May 2021 23(5):888-899

P319: Expanding the phenotype of EIF3F-related neurodevelopmental disorder

Autor: Shad, Zohra, Mbonu, Prisca, Aguiar, Isabella, Hassan, Laiba, Repnikova, Elena

Publikováno v: In Genetics in Medicine Open 2024 2 Supplement 1

A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.

Autor: Bellfield, Edward J.¹, Shad, Zohra² zshad@uic.edu

Publikováno v: Oxford Medical Case Reports. 2017, Vol. 2017 Issue 9, p178-181. 4p.

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Autor: Bellfield, Edward J., Chan, Jacqueline, Durrin, Sarah, Lindgren, Valerie, Shad, Zohra, Boucher-Berry, Claudia

Publikováno v: Case Reports in Endocrinology.

We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=hindawi_publ::702cdd45ad40eb1a4e7bf56f66cbfb0d

Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.

Autor: D'Ambrosio, Fabiola, Chan, Jacqueline T, Aslam, Hunain, Castaneda, Roxana Aguirre, Simone, Lenika De, Shad, Zohra

Publikováno v: Oxford Medical Case Reports; May2019, Vol. 2019 Issue 5, pN.PAG-N.PAG, 1p