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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866
By:
- Rosenfeld, Jill A.;
- Fox, Joyce E.;
- Descartes, Maria;
- Brewer, Fallon;
- Stroud, Tracy;
- Gorski, Jerome L.;
- Upton, Sheila J.;
- Moeschler, John B.;
- Monteleone, Berrin;
- Neill, Nicholas J.;
- Lamb, Allen N.;
- Ballif, Blake C.;
- Shaffer, Lisa G.;
- Ravnan, J. Britt
Publication type:
Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Published in:
Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992
By:
- Risheg, Hiba;
- Graham Jr., John M.;
- Clark, Robin D.;
- Rogers, R. Curtis;
- Opitz, John M.;
- Moeschler, John B.;
- Peiffer, Andreas P.;
- May, Melanie;
- Joseph, Sumy M.;
- Jones, Julie R.;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Friez, Michael J.
Publication type:
Article
Letter to the Editor. Isochromosome 18q revisited.
Published in:
Prenatal Diagnosis, 1997, v. 17, n. 6, p. 589, doi. 10.1002/(SICI)1097-0223(199706)17:6<589::AID-PD126>3.0.CO;2-S
By:
- PARK, JONATHAN P.;
- MOESCHLER, JOHN B.
Publication type:
Article
Prenatal diagnosis and confirmation of trisomy 12 mosaicism.
Published in:
1991
By:
- Park, Jonathan P.;
- McDermet, Melanie K.;
- Moeschler, John B.;
- Wurster-Hill, Doris H.;
- Park, J P;
- McDermet, M K;
- Moeschler, J B;
- Wurster-Hill, D H
Publication type:
Case Study
Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn.
Published in:
1989
By:
- Park, Jonathan P.;
- Moeschler, John B.;
- Rawnsley, Eileen;
- Berg, Susan Z.;
- Wurster-Hill, Doris H.;
- Park, J P;
- Moeschler, J B;
- Rawnsley, E;
- Berg, S Z;
- Wurster-Hill, D H
Publication type:
journal article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
By:
- Szafranski, Przemyslaw;
- Von Allmen, Gretchen K;
- Graham, Brett H;
- Wilfong, Angus A;
- Kang, Sung-Hae L;
- Ferreira, Jose A;
- Upton, Sheila J;
- Moeschler, John B;
- Bi, Weimin;
- Rosenfeld, Jill A;
- Shaffer, Lisa G;
- Wai Cheung, Sau;
- Stankiewicz, Paweł;
- Lalani, Seema R
Publication type:
Article
Neurodevelopmental disorders and genetic testing: Current approaches and future advances.
Published in:
Annals of Neurology, 2013, v. 74, n. 2, p. 164, doi. 10.1002/ana.23950
By:
- Sherr, Elliott H.;
- Michelson, David J.;
- Shevell, Michael I.;
- Moeschler, John B.;
- Gropman, Andrea L.;
- Ashwal, Stephen
Publication type:
Article
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 10, p. 2861, doi. 10.1093/hmg/ddv046
By:
- Brookes, Emily;
- Laurent, Benoit;
- Õunap, Katrin;
- Carroll, Renee;
- Moeschler, John B.;
- Field, Michael;
- Schwartz, Charles E.;
- Gecz, Jozef;
- Yang Shi
Publication type:
Article
Invited comment on terminology.
Published in:
2011
By:
- Moeschler, John B.;
- Nisbeft, Jan
Publication type:
Editorial
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 728, doi. 10.1002/humu.22037
By:
- Lamb, Allen N.;
- Rosenfeld, Jill A.;
- Neill, Nicholas J.;
- Talkowski, Michael E.;
- Blumenthal, Ian;
- Girirajan, Santhosh;
- Keelean-Fuller, Debra;
- Fan, Zheng;
- Pouncey, Jill;
- Stevens, Cathy;
- Mackay-Loder, Loren;
- Terespolsky, Deborah;
- Bader, Patricia I.;
- Rosenbaum, Kenneth;
- Vallee, Stephanie E.;
- Moeschler, John B.;
- Ladda, Roger;
- Sell, Susan;
- Martin, Judith;
- Ryan, Shawnia
Publication type:
Article
A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant.
Published in:
Clinical Genetics, 1992, v. 41, n. 1, p. 54, doi. 10.1111/j.1399-0004.1992.tb03631.x
By:
- Park, Jonathan P.;
- Moeschler, John B.;
- Berg, Susan Z.;
- Bauer, Ranee M.;
- Wurster-Hill, Doris H.
Publication type:
Article
Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.
Published in:
Clinical Genetics, 1991, v. 39, n. 2, p. 142, doi. 10.1111/j.1399-0004.1991.tb03001.x
By:
- Wurster-Hill, Doris H.;
- Marin-Padilla, J. Miguel;
- Moeschler, John B.;
- Park, Jonathan P.;
- McDermet, Melanie
Publication type:
Article

Found: 12