OpenURL Connection Search

Select item for more details and to access through your institution.

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 381, doi. 10.1002/ajmg.a.61020
By:
- Van Batavia, Jason P.;
- Crowley, Terrence B.;
- Burrows, Evanette;
- Zackai, Elaine H.;
- Sanna‐Cherchi, Simone;
- McDonald‐McGinn, Donna M.;
- Kolon, Thomas F.
Publication type:
Article
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2104, doi. 10.1002/ajmg.a.38545
By:
- Homans, Jelle F.;
- Tromp, Isabel N.;
- Colo, Dino;
- Schlösser, Tom P. C.;
- Kruyt, Moyo C.;
- Deeney, Vincent F. X.;
- Crowley, Terrence B.;
- McDonald‐McGinn, Donna M.;
- Castelein, René M.
Publication type:
Article
Club foot in association with the 22q11.2 deletion syndrome: An observational study.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2135, doi. 10.1002/ajmg.a.40649
By:
- Homans, Jelle F.;
- Crowley, Terrence B.;
- Chen, Erin;
- McGinn, Daniel E.;
- Deeney, Vincent F. X.;
- Sakkers, Ralph J. B.;
- Davidson, Richard S.;
- Castelein, René M.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2203, doi. 10.1002/ajmg.a.40494
By:
- Cohen, Jennifer L.;
- Crowley, Terrence B.;
- McGinn, Daniel E.;
- McDougall, Carey;
- Unolt, Marta;
- Lambert, Michele P.;
- Emanuel, Beverly S.;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2172, doi. 10.1002/ajmg.a.40359
By:
- Zhao, Yingjie;
- Guo, Tingwei;
- Fiksinski, Ania;
- Breetvelt, Elemi;
- McDonald‐McGinn, Donna M.;
- Crowley, Terrence B.;
- Diacou, Alexander;
- Schneider, Maude;
- Eliez, Stephan;
- Swillen, Ann;
- Breckpot, Jeroen;
- Vermeesch, Joris;
- Chow, Eva W. C.;
- Gothelf, Doron;
- Duijff, Sasja;
- Evers, Rens;
- Amelsvoort, Thérèse A.;
- Bree, Marianne;
- Owen, Michael;
- Niarchou, Maria
Publication type:
Article
Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.
Published in:
Cleft Palate Craniofacial Journal, 2020, v. 57, n. 7, p. 808, doi. 10.1177/1055665619900871
By:
- Lee, Alfred;
- Chang, Brian L.;
- Solot, Cynthia;
- Crowley, Terrence B.;
- Vemulapalli, Vamsee;
- McDonald-McGinn, Donna M.;
- Maguire, Meg Ann;
- Mason, Thornton B. A.;
- Elden, Lisa;
- Cielo, Christopher M.;
- Jackson, Oksana A.
Publication type:
Article
22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4823, doi. 10.3390/jcm10214823
By:
- de Reuver, Steven;
- Homans, Jelle F.;
- Schlösser, Tom P. C.;
- Houben, Michiel L.;
- Deeney, Vincent F. X.;
- Crowley, Terrence B.;
- Stücker, Ralf;
- Pasha, Saba;
- Kruyt, Moyo C.;
- McDonald-McGinn, Donna M.;
- Castelein, René M.
Publication type:
Article
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 11, p. 1847, doi. 10.1093/hmg/ddy078
By:
- Hasten, Erica;
- McDonald-McGinn, Donna M.;
- Crowley, Terrence B.;
- Zackai, Elaine;
- Emanuel, Beverly S.;
- Morrow, Bernice E.;
- Racedo, Silvia E.
Publication type:
Article
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 7, p. 1150, doi. 10.1093/hmg/ddy028
By:
- Tingwei Guo;
- Diacou, Alexander;
- Hiroko Nomaru;
- McDonald-McGinn, Donna M.;
- Hestand, Matthew;
- Demaerel, Wolfram;
- Liangtian Zhang;
- Yingjie Zhao;
- Ujueta, Francisco;
- Jidong Shan;
- Montagna, Cristina;
- Deyou Zheng;
- Crowley, Terrence B.;
- Kushan-Wells, Leila;
- Bearden, Carrie E.;
- Kates, Wendy R.;
- Gothelf, Doron;
- Schneider, Maude;
- Eliez, Stephan;
- Breckpot, Jeroen
Publication type:
Article

Found: 9