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Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
Published in:
Documenta Ophthalmologica, 2010, v. 121, n. 2, p. 85, doi. 10.1007/s10633-010-9232-3
By:
- Garry, Deirdre;
- Hansen, Ronald;
- Moskowitz, Anne;
- Elias, Ellen R.;
- Irons, Mira;
- Fulton, Anne B.
Publication type:
Article
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 7, p. 651, doi. 10.1002/(SICI)1097-0223(199807)18:7<651::AID-PD316>3.0.CO;2-V
By:
- Tint, G. S.;
- Abuelo, Dianne;
- Till, Marianne;
- Cordier, M. P.;
- Batta, Ashok K.;
- Shefer, Sarah;
- Honda, Akira;
- Honda, Megumi;
- Xu, Guorong;
- Irons, Mira;
- Elias, Ellen R.;
- Salen, Gerald
Publication type:
Article
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 4, p. 369, doi. 10.1002/(SICI)1097-0223(199804)18:4<369::AID-PD373>3.0.CO;2-1
By:
- Irons, Mira B.;
- Tint, G. S.
Publication type:
Article
Neonatalogy Part 1: Neonatal Screening.
Published in:
Pediatric Annals, 2003, v. 32, n. 8, p. 495, doi. 10.3928/0090-4481-20030801-04
By:
- Irons, Mira
Publication type:
Article
The phenotype of recurrent 10q22q23 deletions and duplications.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
By:
- van Bon, Bregje W. M.;
- Balciuniene, Jorune;
- Fruhman, Gary;
- Nagamani, Sandesh Chakravarthy Sreenath;
- Broome, Diane L.;
- Cameron, Elizabeth;
- Martinet, Danielle;
- Roulet, Eliane;
- Jacquemont, Sebastien;
- Beckmann, Jacques S;
- Irons, Mira;
- Potocki, Lorraine;
- Lee, Brendan;
- Sau Wai Cheung;
- Patel, Ankita;
- Bellini, Melissa;
- Selicorni, Angelo;
- Ciccone, Roberto;
- Silengo, Margherita;
- Vetro, Annalisa
Publication type:
Article
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201366
By:
- Wakui, Keiko;
- Gregato, Giuliana;
- Ballif, Blake C.;
- Glotzbach, Caron D.;
- Bailey, Kristen A.;
- Pao-Lin Kuo;
- Whui-Chen Sue;
- Sheffield, Leslie J.;
- Irons, Mira;
- Gomez, Enrique G.;
- Hecht, Jacqueline T.;
- Potocki, Lorraine;
- Shaffer, Lisa G.
Publication type:
Article
Clinical and Mutational Spectrum of Neurofibromatosis Type 1--like Syndrome.
Published in:
JAMA: Journal of the American Medical Association, 2009, v. 302, n. 19, p. 2111, doi. 10.1001/jama.2009.1663
By:
- Messiaen, Ludwine;
- Suxia Yao;
- Brems, Hilde;
- Callens, Tom;
- Sathienkijkanchai, Achara;
- Denayer, Ellen;
- Spencer, Emily;
- Arn, Pamela;
- Babovic-Vuksanovic, Dusica;
- Bay, Carolyn;
- Bobele, Gary;
- Cohen, Bruce H.;
- Escobar, Luis;
- Eunpu, Deborah;
- Grebe, Theresa;
- Greenstein, Robert;
- Hachen, Rachel;
- Irons, Mira;
- Kronn, David;
- Lemire, Edmond
Publication type:
Article
Trustworthy Augmented Intelligence in Health Care.
Published in:
Journal of Medical Systems, 2022, v. 46, n. 2, p. 1, doi. 10.1007/s10916-021-01790-z
By:
- Crigger, Elliott;
- Reinbold, Karen;
- Hanson, Chelsea;
- Kao, Audiey;
- Blake, Kathleen;
- Irons, Mira
Publication type:
Article
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Published in:
Annals of Neurology, 2020, v. 88, n. 6, p. 1153, doi. 10.1002/ana.25904
By:
- Shao, Diane D.;
- Achkar, Christelle M.;
- Lai, Abbe;
- Srivastava, Siddharth;
- Doan, Ryan N.;
- Rodan, Lance H.;
- Chen, Allen Y.;
- Poduri, Annapurna;
- Yang, Edward;
- Walsh, Christopher A.;
- Irons, Mira B.;
- Johnson, Ervin L.;
- Ojeda, Mayra Martinez;
- Olson, Heather E.;
- Sahin, Mustafa;
- Stredny, Coral M.;
- Tan, Wen‐Hann
Publication type:
Article
Copy number variation plays an important role in clinical epilepsy.
Published in:
Annals of Neurology, 2014, v. 75, n. 6, p. 943, doi. 10.1002/ana.24178
By:
- Olson, Heather;
- Shen, Yiping;
- Avallone, Jennifer;
- Sheidley, Beth R.;
- Pinsky, Rebecca;
- Bergin, Ann M.;
- Berry, Gerard T.;
- Duffy, Frank H.;
- Eksioglu, Yaman;
- Harris, David J.;
- Hisama, Fuki M.;
- Ho, Eugenia;
- Irons, Mira;
- Jacobsen, Christina M.;
- James, Philip;
- Kothare, Sanjeev;
- Khwaja, Omar;
- Lipton, Jonathan;
- Loddenkemper, Tobias;
- Markowitz, Jennifer
Publication type:
Article
Utility of hemodialysis in maple syrup urine disease.
Published in:
Pediatric Nephrology, 2002, v. 17, n. 4, p. 239, doi. 10.1007/s00467-001-0801-2
By:
- Puliyanda, Dechu P.;
- Harmon, William E.;
- Peterschmitt, M. Judith;
- Irons, Mira;
- Somers, M. J. G.
Publication type:
Article
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1558, doi. 10.1002/ajmg.a.34021
By:
- Zarowski, Marcin;
- Vendrame, Martina;
- Irons, Mira;
- Kothare, Sanjeev V.
Publication type:
Article
Association of Rapidly Progressive Moyamoya Syndrome With Bevacizumab Treatment for Glioblastoma in a Child With Neurofibromatosis Type 1.
Published in:
Journal of Child Neurology, 2011, v. 26, n. 2, p. 228, doi. 10.1177/0883073810379639
By:
- Ullrich, Nicole J.;
- Zimmerman, MaryAnn;
- Smith, Edward;
- Irons, Mira;
- Marcus, Karen;
- Kieran, Mark W.
Publication type:
Article
Pilot Study of a Novel Computerized Task to Assess Spatial Learning in Children and Adolescents With Neurofibromatosis Type 1.
Published in:
Journal of Child Neurology, 2010, v. 25, n. 10, p. 1195, doi. 10.1177/0883073809358454
By:
- Ullrich, Nicole J.;
- Ayr, Lauren;
- Leaffer, Emily;
- Irons, Mira B.;
- Rey-Casserly, Celiane
Publication type:
Article
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1.
Published in:
Pediatric Blood & Cancer, 2010, v. 54, n. 7, p. 890, doi. 10.1002/pbc.22462
By:
- Huttner, Anita J.;
- Kieran, Mark W.;
- Yao, Xiaopan;
- Cruz, Lilliam;
- Ladner, Jesse;
- Quayle, Katherine;
- Goumnerova, Liliana C.;
- Irons, Mira B.;
- Ullrich, Nicole J.
Publication type:
Article
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
Published in:
Congenital Heart Disease, 2017, v. 12, n. 4, p. 475, doi. 10.1111/chd.12471
By:
- Prosnitz, Aaron R.;
- Leopold, Jane;
- Irons, Mira;
- Jenkins, Kathy;
- Roberts, Amy E.
Publication type:
Article
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
Published in:
Prenatal Diagnosis, 2006, v. 26, n. 9, p. 842, doi. 10.1002/pd.1518
By:
- Craig, Wendy Y.;
- Haddow, James E.;
- Palomaki, Glenn E.;
- Kelley, Richard I.;
- Kratz, Lisa E.;
- Shackleton, Cedric H. L.;
- Marcos, Josep;
- Stephen Tint, G.;
- MacRae, Andrew R;
- Nowaczyk, Malgorzata J.;
- Kloza, Edward M.;
- Irons, Mira B.;
- Roberson, Marie
Publication type:
Article
Antenatal therapy of Smith-Lemli-Opitz syndrome.
Published in:
1999
By:
- Irons, Mira B.;
- Nores, Jose;
- Stewart, Theresa L.;
- Craigo, Sabrina D.;
- Bianchi, Diana W.;
- D'Alton, Mary E.;
- Tint, G. Stephen;
- Salen, Gerald;
- Bradley, Linda A.;
- Irons, M B;
- Nores, J;
- Stewart, T L;
- Craigo, S D;
- Bianchi, D W;
- D'Alton, M E;
- Tint, G S;
- Salen, G;
- Bradley, L A
Publication type:
journal article
Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization.
Published in:
Journal of Neurosurgery, 2013, p. 417, doi. 10.3171/2012.12.PEDS12281
By:
- KOSS, MCKENZIE;
- SCOTT, R. MICHAEL;
- IRONS, MIRA B.;
- SMITH, EDWARD R.;
- ULLRICH, NICOLE J.
Publication type:
Article
Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1.
Published in:
Journal of Neurosurgery, 2013, p. 410, doi. 10.3171/2013.1.PEDS12409
By:
- ARRINGTON, DANIEL K.;
- DANEHY, AMY R.;
- PELEGGI, ANALISE;
- PROCTOR, MARK R.;
- IRONS, MIRA B.;
- ULLRICH, NICOLE J.
Publication type:
Article

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