Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus von Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.

Volltext

Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature von Shanske, Alan L, Bernstein, Larry, Herzog, Ronit

Volltext

Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk von SHANSKE, Alan L

Volltext

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation von Edvardson, Simon, Shaag, Avraham, Zenvirt, Shamir, Erlich, Yaniv, Hannon, Gregory J., Shanske, Alan L., Gomori, John Moshe, Ekstein, Joseph, Elpeleg, Orly

Volltext

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 ( TWSG1) gene in human holoprosencephaly von Kauvar, Emily F., Hu, Ping, Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Dutra, Amalia, Pak, Evgenia, Blessing, Brooke, Proud, Virginia, Shanske, Alan L., Stevens, Cathy A., Rosenfeld, Jill A., Shaffer, Lisa G., Roessler, Erich, Muenke, Maximilian

Volltext

Introductory comments on special section-New developments in craniofacial biology: Putting on a happy face von Shanske, Alan L.

Volltext

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects von Lu, Weining, Quintero-Rivera, Fabiola, Fan, Yanli, Alkuraya, Fowzan S, Donovan, Diana J, Xi, Qiongchao, Turbe-Doan, Annick, Li, Qing-Gang, Campbell, Craig G, Shanske, Alan L, Sherr, Elliott H, Ahmad, Ayesha, Peters, Roxana, Rilliet, Benedict, Parvex, Paloma, Bassuk, Alexander G, Harris, David J, Ferguson, Heather, Kelly, Chantal, Walsh, Christopher A, Gronostajski, Richard M, Devriendt, Koenraad, Higgins, Anne, Ligon, Azra H, Quade, Bradley J, Morton, Cynthia C, Gusella, James F, Maas, Richard L

Volltext

Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature von Doherty, Emily S., Lacbawan, Felicitas, Hadley, Donald W., Brewer, Carmen, Zalewski, Christopher, Kim, H. Jeff, Solomon, Beth, Rosenbaum, Kenneth, Domingo, Demetrio L., Hart, Thomas C., Brooks, Brian P., Immken, LaDonna, Lowry, R. Brian, Kimonis, Virginia, Shanske, Alan L., Jehee, Fernanda Sarquis, Bueno, Maria Rita Passos, Knightly, Carol, McDonald-McGinn, Donna, Zackai, Elaine H., Muenke, Maximilian

Volltext

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome von MCDERMOTT, Deborah A, BRESSAN, Michael C, PIERPONT, Mary Ella, RAAS-ROTHSCHILD, Annick, SHANSKE, Alan L, SMITH, Wendy E, SPENCER, Robert H, JOHN-SUTTON, Martin G. St, VAN MALDERGEM, Lionel, WAGGONER, Darrel J, WEBER, Matthew, BASSON, Craig T, JIE HE, LEE, Joseph S, AFTIMOS, Salim, BRUECKNER, Martina, GILBERT, Fred, GRAHAM, Gail E, HANNIBAL, Mark C, INNIS, Jeffrey W

Volltext

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature von Torgyekes, Edina, Shanske, Alan L., Anyane-Yeboa, Kwame, Nahum, Odelia, Pirzadeh, Sara, Blumfield, Einat, Jobanputra, Vaidehi, Warburton, Dorothy, Levy, Brynn

Volltext

Germline mosacism in Shprintzen-Goldberg syndrome von Shanske, Alan L., Goodrich, James T., Ala-Kokko, Leena, Baker, Stuart, Frederick, Barbara, Levy, Brynn

Volltext

Cervical vascular and upper airway asymmetry in velo-cardio-facial syndrome: Correlation of nasopharyngoscopy with MRA von Oppenheimer, Avi G, Fulmer, Susan, Shifteh, Keivan, Chang, Ja-Kwei, Brook, Allan, Shanske, Alan L, Shprintzen, Robert J

Volltext

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia von Monks, Dennis C, Jahangir, Arthee, Shanske, Alan L, Samanich, Joy, Morrow, Bernice E, Babcock, Melanie

Volltext

Trisomy 18 in a second 20-year-old woman von Shanske, Alan L.

Volltext

Mosaicism in Marshall syndrome von Ala-Kokko, Leena, Shanske, Alan L.

Volltext

Interparietal bone (Os Incae) in craniosynostosis von Wu, June K., Goodrich, James T., Amadi, Chiemezie C., Miller, Todd, Mulliken, John B., Shanske, Alan L.

Volltext

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients von Herman, Sean B., Guo, Tingwei, McGinn, Donna M. McDonald, Blonska, Anna, Shanske, Alan L., Bassett, Anne S., Chow, Eva W.C., Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann, Breckpot, Jeroen, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Carpenter, Courtney, Zheng, Xin, Johnson, Jacob, Chung, Jonathan, Higgins, Anne Marie, Philip, Nicole, Simon, Tony, Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly S., Morrow, Bernice E.

Volltext

Letter to the editor: Hidden pituitary gland: Implications for assessment von Paroder, Viktoriya, Miller, Todd, Shanske, Alan L., Shiota, Kohei, Khan, Muhammad Naeem, Cohen Jr, M. Michael

Volltext

Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature von Shanske, Alan L., Yachelevich, Naomi, Ala-Kokko, Leena, Leonard, Jay, Levy, Brynn

Volltext

Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13) von Shanske, Alan L., Patel, Ankita, Saukam, Sou, Levy, Brynn, Lüdecke, Hermann‐Josef

Volltext