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Prenatal Alcohol Exposure in Relation to Autism Spectrum Disorder: Findings from the Study to Explore Early Development (SEED).
Published in:
2017
By:
- Singer, Alison B.;
- Aylsworth, Arthur S.;
- Cordero, Christina;
- Croen, Lisa A.;
- DiGuiseppi, Carolyn;
- Fallin, M. Daniele;
- Herring, Amy H.;
- Hooper, Stephen R.;
- Pretzel, Rebecca E.;
- Schieve, Laura A.;
- Windham, Gayle C.;
- Daniels, Julie L.
Publication type:
journal article
Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq).
Published in:
Clinical Genetics, 1996, v. 49, n. 4, p. 216, doi. 10.1111/j.1399-0004.1996.tb03290.x
By:
- Wells, Steven R.;
- Kuller, Jeffrey A.;
- Rao, Kathleen W.;
- Aylsworth, Arthur S.
Publication type:
Article
Personal journeys to and in human genetics and dysmorphology.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
By:
- Schwartz, Charles E.;
- Aylsworth, Arthur S.;
- Allanson, Judith;
- Battaglia, Agatino;
- Carey, John C.;
- Curry, Cynthia J.;
- Davies, Kay E.;
- Eichler, Evan E.;
- Graham, John M.;
- Hall, Bryan;
- Hall, Judith G.;
- Holmes, Lewis B.;
- Hoyme, H. Eugene;
- Hunter, Alasdair;
- Innis, Jeffrey;
- Johnson, John;
- Keppler‐Noreuil, Kim M.;
- Leroy, Jules G.;
- Moore, Cynthia;
- Nelson, David L.
Publication type:
Article
Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1846, doi. 10.1002/ajmg.a.61296
By:
- Forestieri, Nina E.;
- Desrosiers, Tania A.;
- Freedman, Sharon F.;
- Aylsworth, Arthur S.;
- Voltzke, Kristin;
- Olshan, Andrew F.;
- Meyer, Robert E.
Publication type:
Article
Cleft palate and hypopituitarism in a patient with Noonan‐like syndrome with loose anagen hair‐1.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2024, doi. 10.1002/ajmg.a.40432
By:
- Couser, Natario L.;
- Keelean‐Fuller, Debra;
- Davenport, Marsha L.;
- Haverfield, Eden;
- Masood, Maheer M.;
- Henin, Mark;
- Aylsworth, Arthur S.
Publication type:
Article
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1097, doi. 10.1002/ajmg.a.38141
By:
- Couser, Natario L.;
- Pande, Chetna K.;
- Turcott, Christie M.;
- Spector, Elaine B.;
- Aylsworth, Arthur S.;
- Powell, Cynthia M.
Publication type:
Article
Camptodactyly and the 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 515, doi. 10.1002/ajmg.a.38029
By:
- Couser, Natario L.;
- Pande, Chetna K.;
- Walsh, Jonathan M.;
- Tepperberg, James;
- Aylsworth, Arthur S.
Publication type:
Article
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 825, doi. 10.1002/ajmg.a.37495
By:
- Meyer, Robert E.;
- Liu, Gang;
- Gilboa, Suzanne M.;
- Ethen, Mary K.;
- Aylsworth, Arthur S.;
- Powell, Cynthia M.;
- Flood, Timothy J.;
- Mai, Cara T.;
- Wang, Ying;
- Canfield, Mark A.
Publication type:
Article
Aortopathy in the 7q11.23 microduplication syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 363, doi. 10.1002/ajmg.a.36859
By:
- Parrott, Ashley;
- James, Jeanne;
- Goldenberg, Paula;
- Hinton, Robert B.;
- Miller, Erin;
- Shikany, Amy;
- Aylsworth, Arthur S.;
- Kaiser‐Rogers, Kathleen;
- Ferns, Sunita J.;
- Lalani, Seema R.;
- Ware, Stephanie M.
Publication type:
Article
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1833, doi. 10.1002/ajmg.a.35996
By:
- Curry, Cynthia J.;
- RosENfeld, Jill A.;
- Grant, Erica;
- Gripp, KarEN W.;
- Anderson, Carol;
- Aylsworth, Arthur S.;
- Saad, Taha BEN;
- Chizhikov, Victor V.;
- Dybose, Giedre;
- Fagerberg, Christina;
- Falco, Michelle;
- Fels, Christina;
- Fichera, Marco;
- Graakjaer, Jesper;
- Greco, Donatella;
- Hair, JENnifer;
- Hopkins, Elizabeth;
- Huggins, MarlENe;
- Ladda, Roger;
- Li, Chumei
Publication type:
Article
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 198, doi. 10.1002/ajmg.a.35671
By:
- Montgomery, Nathan D.;
- Turcott, Christie M.;
- Tepperberg, James H.;
- McDonald, Marie T.;
- Aylsworth, Arthur S.
Publication type:
Article
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Published in:
Nature Genetics, 2002, v. 32, n. 2, p. 285, doi. 10.1038/ng985
By:
- Kondo, Shinji;
- Schutte, Brian C.;
- Richardson, Rebecca J.;
- Bjork, Bryan C.;
- Knight, Alexandra S.;
- Watanabe, Yoriko;
- Howard, Emma;
- Ferreira de Lima, Renata L.L.;
- Daack-Hirsch, Sandra;
- Sander, Achim;
- McDonald-McGinn, Donna M.;
- Zackai, Elaine H.;
- Lammer, Edward J.;
- Aylsworth, Arthur S.;
- Ardinger, Holly H.;
- Lidral, Andrew C.;
- Pober, Barbara R.;
- Moreno, Lina;
- Arcos-Burgos, Mauricio;
- Valencia, Consuelo
Publication type:
Article
C-type natriuretic Peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
Published in:
2015
By:
- Olney, Robert C;
- Prickett, Timothy C R;
- Espiner, Eric A;
- Mackenzie, William G;
- Duker, Angela L;
- Ditro, Colleen;
- Zabel, Bernhard;
- Hasegawa, Tomonobu;
- Kitoh, Hiroshi;
- Aylsworth, Arthur S;
- Bober, Michael B
Publication type:
Journal Article
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.
Published in:
1997
By:
- HANSEN, WENDY F.;
- BERNARD, LYNN E.;
- LANGLOIS, SYLVIE;
- RAO, KATHLEEN W.;
- CHESCHEIR, NANCY C.;
- AYLSWORTH, ARTHUR S.;
- SMITH, D. IAN;
- ROBINSON, WENDY P.;
- BARRETT, IRENE J.;
- KALOUSEK, DAGMAR K.;
- Hansen, W F;
- Bernard, L E;
- Langlois, S;
- Rao, K W;
- Chescheir, N C;
- Aylsworth, A S;
- Smith, D I;
- Robinson, W P;
- Barrett, I J;
- Kalousek, D K
Publication type:
journal article
Iniencephaly is not uniformly fatal.
Published in:
Prenatal Diagnosis, 1989, v. 9, n. 8, p. 595, doi. 10.1002/pd.1970090809
By:
- Katz, Vern L.;
- Aylsworth, Arthur S.;
- Albright, Susan G.
Publication type:
Article
Academic Achievement Among Children With Nonsyndromic Orofacial Clefts: A Population-Based Study.
Published in:
Cleft Palate Craniofacial Journal, 2018, v. 55, n. 1, p. 12, doi. 10.1177/1055665617718823
By:
- Watkins, Stephanie E.;
- Meyer, Robert E.;
- Aylsworth, Arthur S.;
- Marcus, Jeffrey R.;
- Allori, Alexander C.;
- Pimenta, Luiz;
- Lipinski, Robert J.;
- Strauss, Ronald P.
Publication type:
Article
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 7, p. 1227, doi. 10.1002/aur.2314
By:
- Tian, Lin H.;
- Wiggins, Lisa D.;
- Schieve, Laura A.;
- Yeargin‐Allsopp, Marshalyn;
- Dietz, Patricia;
- Aylsworth, Arthur S.;
- Elias, Ellen R.;
- Hoover‐Fong, Julie E.;
- Meeks, Naomi J. L.;
- Souders, Margaret C.;
- Tsai, Anne C.‐H.;
- Zackai, Elaine H.;
- Alexander, Aimee A.;
- Dowling, Nicole F.;
- Shapira, Stuart K.
Publication type:
Article
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome.
Published in:
PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006568
By:
- Rosenfeld, Jill A.;
- Ballif, Blake C.;
- Lucas, Ann;
- Spence, Edward J.;
- Powell, Cynthia;
- Aylsworth, Arthur S.;
- Torchia, Beth A.;
- Shaffer, Lisa G.
Publication type:
Article
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Published in:
Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7
By:
- Rosenfeld, Jill A.;
- Ballif, Blake C.;
- Martin, Donna M.;
- Aylsworth, Arthur S.;
- Bejjani, Bassem A.;
- Torchia, Beth S.;
- Shaffer, Lisa G.
Publication type:
Article
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
Published in:
Journal of Autism & Developmental Disorders, 2019, v. 49, n. 5, p. 2184, doi. 10.1007/s10803-019-03899-0
By:
- Shapira, Stuart K.;
- Tian, Lin H.;
- Aylsworth, Arthur S.;
- Elias, Ellen R.;
- Hoover-Fong, Julie E.;
- Meeks, Naomi J. L.;
- Souders, Margaret C.;
- Tsai, Anne C.-H.;
- Zackai, Elaine H.;
- Alexander, Aimee A.;
- Yeargin-Allsopp, Marshalyn;
- Schieve, Laura A.
Publication type:
Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
By:
- Rosenfeld, Jill A;
- Traylor, Ryan N;
- Schaefer, G Bradley;
- McPherson, Elizabeth W;
- Ballif, Blake C;
- Klopocki, Eva;
- Mundlos, Stefan;
- Shaffer, Lisa G;
- Aylsworth, Arthur S
Publication type:
Article
Autoimmune polyendocrinopathy associated with ring chromosome 18.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 847, doi. 10.1515/JPEM.2011.320
By:
- Jain, Nina;
- Reitnauer, Pamela J.;
- Rao, Kathleen W.;
- Aylsworth, Arthur S.;
- Calikoglu, Ali S.
Publication type:
Article
Maternal Exposure to Criteria Air Pollutants and Congenital Heart Defects in Offspring: Results from the National Birth Defects Prevention Study.
Published in:
Environmental Health Perspectives, 2014, v. 122, n. 8, p. 863, doi. 10.1289/ehp.1307289
By:
- Stingone, Jeanette A.;
- Luben, Thomas J.;
- Daniels, Julie L.;
- Fuentes, Montserrat;
- Richardson, David B.;
- Aylsworth, Arthur S.;
- Herring, Amy H.;
- Anderka, Marlene;
- Botto, Lorenzo;
- Correa, Adolfo;
- Gilboa, Suzanne M.;
- Langlois, Peter H.;
- Mosley, Bridget;
- Shaw, Gary M.;
- Siffel, Csaba;
- Olshan, Andrew F.
Publication type:
Article
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 536, doi. 10.1093/brain/aws338
By:
- Cushion, Thomas D.;
- Dobyns, William B.;
- Mullins, Jonathan G. L.;
- Stoodley, Neil;
- Chung, Seo-Kyung;
- Fry, Andrew E.;
- Hehr, Ute;
- Gunny, Roxana;
- Aylsworth, Arthur S.;
- Prabhakar, Prab;
- Uyanik, Gökhan;
- Rankin, Julia;
- Rees, Mark I.;
- Pilz, Daniela T.
Publication type:
Article
Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring.
Published in:
American Journal of Epidemiology, 2017, v. 186, n. 6, p. 719, doi. 10.1093/aje/kwx139
By:
- Stingone, Jeanette A.;
- Luben, Thomas J.;
- Carmichael, Suzan L.;
- Aylsworth, Arthur S.;
- Botto, Lorenzo D.;
- Correa, Adolfo;
- Gilboa, Suzanne M.;
- Langlois, Peter H.;
- Nembhard, Wendy N.;
- Richmond-Bryant, Jennifer;
- Shaw, Gary M.;
- Olshan, Andrew F.
Publication type:
Article
Special education use in elementary school by children with nonsyndromic orofacial clefts.
Published in:
Birth Defects Research, 2019, v. 111, n. 3, p. 142, doi. 10.1002/bdr2.1418
By:
- Watkins, Stephanie E.;
- Allori, Alexander C.;
- Meyer, Robert E.;
- Aylsworth, Arthur S.;
- Marcus, Jeffrey R.;
- Strauss, Ronald P.
Publication type:
Article
Maternal Body Mass Index and Lifestyle Exposures and the Risk of Bilateral Renal Agenesis or Hypoplasia: The National Birth Defects Prevention Study.
Published in:
American Journal of Epidemiology, 2008, v. 168, n. 11, p. 1259
By:
- Jennifer E. Slickers;
- Andrew F. Olshan;
- Anna Maria Siega-Riz;
- Margaret A. Honein;
- Arthur S. Aylsworth;
- for the National Birth Defects Prevention Study
Publication type:
Article
A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 6, p. 811, doi. 10.1177/0883073811435246
By:
- Vatta, Matteo;
- Tennison, Michael B.;
- Aylsworth, Arthur S.;
- Turcott, Christie M.;
- Guerra, Maria P.;
- Eng, Christine M.;
- Yang, Yaping
Publication type:
Article
Direct-to-Consumer Genomic Testing Offers Little Clinical Utility but Appears to Cause Minimal Harm.
Published in:
North Carolina Medical Journal, 2013, v. 74, n. 6, p. 494, doi. 10.18043/ncm.74.6.494
By:
- Adams, Stacie D.;
- Evans, James P.;
- Aylsworth, Arthur S.
Publication type:
Article
Bayesian multinomial probit modeling of daily windows of susceptibility for maternal PM2.5 exposure and congenital heart defects.
Published in:
2016
By:
- Warren, Joshua L.;
- Stingone, Jeanette A.;
- Herring, Amy H.;
- Luben, Thomas J.;
- Fuentes, Montserrat;
- Aylsworth, Arthur S.;
- Langlois, Peter H.;
- Botto, Lorenzo D.;
- Correa, Adolfo;
- Olshan, Andrew F.
Publication type:
journal article
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 6, p. 975
By:
- Heim, Ruth A.;
- Kam-Morgan, Lauren N.W.;
- Binnie, Cameron G.;
- Corns, David D.;
- Cayouette, Matthew C.;
- Farber, Rosann A.;
- Aylsworth, Arthur S.;
- Silverman, Lawrence M.;
- Luce, Michael C.
Publication type:
Article
An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 11, p. 1973
By:
- Tarleton, Jack;
- Richle, Renee;
- Schwarsz, Charles;
- Rao, Kathleen;
- Aylsworth, Arthur S.;
- Lachlewicz, Ave
Publication type:
Article

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