CHARGE Syndrome vs. DiGeorge Syndrome: A Comparison of Immunologic and Non-immunologic Phenotypic Features von Jyonouchi, S, Sullivan, K.E, Mc Donald McGinn, D, Zackai, E

Volltext

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association von Ming, Jeffrey E., Russell, Karen L., Bason, Lynn, McDonald-McGinn, Donna M., Zackai, Elaine H.

Volltext

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome von Gross, S. J., Stosic, M., McDonald‐McGinn, D. M., Bassett, A. S., Norvez, A., Dhamankar, R., Kobara, K., Kirkizlar, E., Zimmermann, B., Wayham, N., Babiarz, J. E., Ryan, A., Jinnett, K. N., Demko, Z., Benn, P.

Volltext

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome von Ahmad, N N, McDonald-McGinn, D M, Dixon, P, Zackai, E H, Tasman, W S

Volltext

Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age von McElhinney, Doff B, McDonald-McGinn, Donna, Zackai, Elaine H, Goldmuntz, Elizabeth

Volltext

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review von Verheij, E, Elden, L, Crowley, T B, Pameijer, F A, Zackai, E H, McDonald-McGinn, D M, Thomeer, H G X M

Volltext

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) von Zemble, R, Luning Prak, E, McDonald, K, McDonald-McGinn, D, Zackai, E, Sullivan, K

Volltext

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome von Tang, S X, Moore, T M, Calkins, M E, Yi, J J, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Gur, R C, Gur, R E

Volltext

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome von Gripp, Karen W., Stolle, Catherine A., Celle, Livija, McDonald-McGinn, Donna M., Whitaker, Linton A., Zackai, Elaine H.

Volltext

Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes von Simon, T.J., Takarae, Y., DeBoer, T., McDonald-McGinn, D.M., Zackai, E.H., Ross, J.L.

Volltext

A UNIQUE CONSTELLATION OF NEUROPATHOLOGIC FINDINGS IN TWO SIBLINGS WITH OTHER MALFORMATIONS von Golden, J. A., Smith, R., Kline, A. D., Ming, J., McDonald-McGinn, D. M., Little, B., Rorke, L. B., Zackai, E. H.

Volltext

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated von Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.

Volltext

Polymicrogyria in chromosome 22 delection syndrome von Bingham, P M, Lynch, D, McDonald-McGinn, D, Zackai, E

Volltext

Syndromes and the study of autism von Kao, C, Deardorff, M.A, McDonald-McGinn, D, Zackai, E.H, Emanuel, B.S, Schultz, R.T, Hakonarson, H

Volltext

Parathyroid hormone reserve in 22q11.2 deletion syndrome von Kapadia, Chirag R., Kim, Yuran E., McDonald-McGinn, Donna M., Zackai, Elaine H., Katz, Lorraine E. Levitt

Volltext

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis von Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S

Volltext

56B: THE ROLE OF FGFR2 MUTATIONS ON PHENOTYPES AND SURGICAL OUTCOMES IN PATIENTS WITH APERT, CROUZON AND PFEIFFER SYNDROMES von Percec, I, Foo, R, Wilson, A, McDonald-Mcginn, D, Zackai, E

Volltext

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting von Ming, Jeffrey E., Blagowidow, Natalie, Knoll, Joan H.M., Rollings, Lori, Fortina, Paolo, McDonald-McGinn, Donna M., Spinner, Nancy B., Zackai, Elaine H.

Volltext

Graves' disease in patients with 22q11.2 deletion von Kawame, Hiroshi, Adachi, Masanori, Tachibana, Katsuhiko, Kurosawa, Kenji, Ito, Fumiyuki, Gleason, Marie M., Weinzimer, Stuart, Levitt-Katz, Lorraine, Sullivan, Kathleen, McDonald-McGinn, Donna M.

Volltext

Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion von Gerdes, Marsha, Solot, Cynthia, Wang, Paul P, McDonald-McGinn, Donna M, Zackai, Elaine H

Volltext