Search Results - "Schweitzer, Daniela"

Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis by Gallagher, Emily R, Chow, Penny, Mills, Maria R, Perry, Hazel, Tam, Allison C, Rosenbluth, Glenn, Gutierrez, Yvonne R, Shamshoni, Jessica Kianmahd, Matthews, Marisa, Schweitzer, Daniela N, Hing, Anne

“…To develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions. An online collaborative consisting of online…”
Get full text

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms by Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.

“…The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated…”
Get full text

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate by Sahoo, Trilochan, Theisen, Aaron, Sanchez-Lara, Pedro A., Marble, Michael, Schweitzer, Daniela N., Torchia, Beth S., Lamb, Allen N., Bejjani, Bassem A., Shaffer, Lisa G., Lacassie, Yves

“…Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft…”
Get full text

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome by Overhoff, Justin, Rabideau, Marina M., Bird, Lynne M., Schweitzer, Daniela N., Haynes, Karla, Schultz, Roger A., Shaffer, Lisa G., Rosenfeld, Jill A., Ellison, Jay W.

Get full text

van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers by Schweitzer, Daniela N., Lachman, Ralph S., Pressman, Barry D., Graham, John M.

“…We describe two Hispanic brothers born to unrelated parents with van den Ende–Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic…”
Get full text

Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case by Schweitzer, Daniela N., Yano, Shoji, Earl, Dawn L., Graham, John M.

“…In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external…”
Get full text

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome by Pisan, Elise, De Luca, Chiara, Brancati, Francesco, Sanchez Russo, Rossana, Li, Dong, Bhoj, Elizabeth, Wenger, Tara, Marwaha, Ashish, Johnson, Nicole, Beneteau, Claire, Brischoux-Boucher, Elise, Houge, Gunnar, Paulsen, Julie, Hammer, Trine Bjørg, Ek, Jakob, Schweitzer, Daniela, Russell, Bianca E, Dutra-Clarke, Marina, Nelson, Stanley, Douine, Emilie D, Corona, Rosario I, Dudding, Tracy, Thomson, Hannah, Low, Karen, Belnap, Newell, Iascone, Maria, Priolo, Manuela, Carli, Diana, Mussa, Alessandro, Bijlsma, Emilia K, Kopp, Nathan, Jais, Jean-Philippe, Amiel, Jeanne, Gordon, Christopher T

Get full text

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder by Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., Zweier, Christiane

“…LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but it has not been clearly…”
Get full text

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities by Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza

“…Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein…”
Get full text

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature by Gardner, Olivia K., Haynes, Karla, Schweitzer, Daniela, Johns, Alexis, Magee, William P., Urata, Mark M., Sanchez-Lara, Pedro A.

“…We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two…”
Get full text

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome by Hildebrandt, Clara C., Patel, Nisha, Graham, John M., Bamshad, Michael, Nickerson, Deborah A., White, Janson J., Marvin, Colby T., Miller, Danny E., Grand, Katheryn L., Sanchez‐Lara, Pedro A., Schweitzer, Daniela, Al‐Zaidan, Hamad I., Al Masseri, Zainab, Alkuraya, Fowzan S., Lin, Angela E.

“…Van den Ende‐Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected…”
Get full text

Partial craniofacial duplication: A review of the literature and case report by Costa, Melinda A, Borzabadi-Farahani, Ali, Lara-Sanchez, Pedro A, Schweitzer, Daniela, Jacobson, Lia, Clarke, Noreen, Hammoudeh, Jeffery, Urata, Mark M, Magee, William P

“…Abstract Diprosopus (Greek; di-, “two” + prosopon, “face”), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication…”
Get full text

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3 by Schweitzer, Daniela N., Graham Jr, John M., Lachman, Ralph S., Jabs, Ethylin Wang, Okajima, Kazuki, Przylepa, Kelly A., Shanske, Alan, Chen, Kelly, Neidich, Julie A., Wilcox, William R.

“…A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the…”
Get full text

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome by Hildebrandt, Clara C, Patel, Nisha, Graham, John M, Bamshad, Michael, Nickerson, Deborah A, White, Janson J, Marvin, Colby T, Miller, Danny E, Grand, Katheryn L, Sanchez-Lara, Pedro A, Schweitzer, Daniela, Al-Zaidan, Hamad I, Al Masseri, Zainab, Alkuraya, Fowzan S, Lin, Angela E

Get full text

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case by Schweitzer, Daniela N., Yano, Shoji, Earl, Dawn L., Graham Jr, John M.

Get full text

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers by Schweitzer, Daniela N., Lachman, Ralph S., Pressman, Barry D., Graham Jr, John M.

Get full text