Arthur S Aylsworth

Arthur S Aylsworth

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Arthur S Aylsworth

Publications by authors named "Arthur S Aylsworth"

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Risk factors for primary congenital glaucoma in the National Birth Defects Prevention Study.

Am J Med Genet A 2019 Sep 16;179(9):1846-1856. Epub 2019 Jul 16.

North Carolina Birth Defects Monitoring Program, State Center for Health Statistics, Raleigh, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.61296DOI Listing
September 2019

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

Am J Hum Genet 2019 Aug 18;105(2):425-433. Epub 2019 Jul 18.

Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA; Departments of Ophthalmology and Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698968PMC
August 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Special education use in elementary school by children with nonsyndromic orofacial clefts.

Birth Defects Res 2019 02 5;111(3):142-150. Epub 2018 Dec 5.

School of Dentistry and UNC Craniofacial Center, University of North Carolina, Chapel Hill, North Carolina.

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http://doi.wiley.com/10.1002/bdr2.1418
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http://dx.doi.org/10.1002/bdr2.1418DOI Listing
February 2019

Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.

Am J Med Genet A 2018 09 21;176(9):2024-2027. Epub 2018 Sep 21.

Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

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http://doi.wiley.com/10.1002/ajmg.a.40432
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http://dx.doi.org/10.1002/ajmg.a.40432DOI Listing
September 2018

Ocular manifestations in the X-linked intellectual disability syndromes.

Ophthalmic Genet 2017 Sep-Oct;38(5):401-412. Epub 2017 Jan 23.

e Greenwood Genetic Center, JC Self Research Institute of Human Genetics , Greenwood , South Carolina , USA.

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http://dx.doi.org/10.1080/13816810.2016.1247459DOI Listing
December 2017

A Population-Based Exploration of the Social Implications Associated with Cleft Lip and/or Palate.

Plast Reconstr Surg Glob Open 2017 Jun 29;5(6):e1373. Epub 2017 Jun 29.

Division of Plastic, Maxillofacial and Oral Surgery, Duke University Hospital, Durham, N.C.; Division of Plastic, Maxillofacial and Oral Surgery, Duke University Hospital and Children's Health Center, Durham, N.C.; Department of Surgery, Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, Calif.; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, N.C.; North Carolina State Center for Health Statistics Birth Defects Monitoring Program, Raleigh, N.C.; Department of Dental Ecology, School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, N.C.; and Center for Health Promotion and Disease Prevention, University of North Carolina at Chapel Hill, Chapel Hill, N.C.

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http://dx.doi.org/10.1097/GOX.0000000000001373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505843PMC
June 2017

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Am J Med Genet A 2017 Apr 9;173(4):1097-1101. Epub 2017 Feb 9.

Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38141DOI Listing
April 2017

Camptodactyly and the 22q11.2 deletion syndrome.

Am J Med Genet A 2017 Feb 28;173(2):515-518. Epub 2016 Oct 28.

Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University, of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38029DOI Listing
February 2017

Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

Plast Reconstr Surg 2016 Dec;138(6):1275-1285

Durham, Chapel Hill, and Raleigh, N.C. From Duke University School of Medicine; the Divisions of Plastic, Maxillofacial and Oral Surgery and Otolaryngology/Head and Neck Surgery and Communications Sciences, Duke Children's Hospital; the Departments of Dental Ecology, Genetics, and Pediatrics, and the Center for Health Promotion and Disease Prevention, University of North Carolina at Chapel Hill; the State Center for Health Statistics, Department of Health and Human Services; and the Department of Physical Therapy, Methodist University.

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http://Insights.ovid.com/crossref?an=00006534-201612000-0002
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http://dx.doi.org/10.1097/PRS.0000000000002772DOI Listing
December 2016

Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period.

Birth Defects Res A Clin Mol Teratol 2016 Nov 11;106(11):935-939. Epub 2016 Aug 11.

Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/bdra.23555DOI Listing
November 2016

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Am J Med Genet A 2016 Apr 10;170A(4):825-37. Epub 2015 Dec 10.

Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898882PMC
April 2016

Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the North Carolina Cleft Outcomes Study.

Birth Defects Res A Clin Mol Teratol 2015 Nov 6;103(11):899-903. Epub 2015 Aug 6.

North Carolina State Center for Health Statistics, North Carolina Birth Defects Monitoring Program, Raleigh, North Carolina.

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http://dx.doi.org/10.1002/bdra.23415DOI Listing
November 2015

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

J Clin Endocrinol Metab 2015 Feb 11;100(2):E355-9. Epub 2014 Nov 11.

Nemours Children's Clinic (R.C.O.), Jacksonville, Florida 32207; University of Otago (T.C.R.P., E.A.E.), Christchurch 8011, New Zealand; Nemours/Alfred I. duPont Hospital for Children (W.G.M., A.L.D., C.D., M.B.B.), Wilmington, Delaware 19803; University Hospital Freiburg (B.Z.), 79106 Freiburg, Germany; Keio University School of Medicine (T.H.), Tokyo 108-8345, Japan; Nagoya University School of Medicine (H.K.), Nagoya 464-8601, Japan; and University of North Carolina (A.S.A.), Chapel Hill, North Carolina 27599-2100.

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http://dx.doi.org/10.1210/jc.2014-2814DOI Listing
February 2015

Aortopathy in the 7q11.23 microduplication syndrome.

Am J Med Genet A 2015 Feb 26;167A(2):363-70. Epub 2014 Nov 26.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Heart Institute, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36859DOI Listing
February 2015

Genetics of hemangiomas, vascular malformations, and primary lymphedema.

J Pediatr Hematol Oncol 2014 Nov;36(8):587-93

Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill, NC.

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http://dx.doi.org/10.1097/MPH.0000000000000260DOI Listing
November 2014

Further support for first-trimester disruption causing the oromandibular-limb hypogenesis spectrum of anomalies.

Clin Dysmorphol 2014 Jul;23(3):101-4

aSchool of Medicine bDepartment of Ophthalmology cUNC Center for Maternal and Infant Health Departments of dPediatrics ePediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000039DOI Listing
July 2014

Classification, epidemiology, and genetics of orofacial clefts.

Clin Plast Surg 2014 Apr;41(2):149-63

Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, CB# 7487, UNC Campus, Chapel Hill, NC 27599-7487, USA.

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https://www.researchgate.net/profile/Robert_Meyer7/publicati
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http://dx.doi.org/10.1016/j.cps.2013.12.003DOI Listing
April 2014

Direct-to-consumer genomic testing offers little clinical utility but appears to cause minimal harm.

N C Med J 2013 Nov-Dec;74(6):494-8

Corresponding author: Arthur S. Aylesworth, University of North Carolina at Chapel Hill, CB 7487, Chapel Hill, NC 27599, USA.

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January 2014

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Brain 2013 Feb 29;136(Pt 2):536-48. Epub 2013 Jan 29.

Institute of Life Science, College of Medicine, Swansea University, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.1093/brain/aws338DOI Listing
February 2013

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Am J Med Genet A 2013 Jan 13;161A(1):198-202. Epub 2012 Dec 13.

Department of Pathology, University of North Carolina, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1002/ajmg.a.35671DOI Listing
January 2013

A novel STXBP1 mutation causes focal seizures with neonatal onset.

J Child Neurol 2012 Jun;27(6):811-4

Department of Molecular and Human Genetics, Baylor College of Medicine, TX 77030, USA.

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http://dx.doi.org/10.1177/0883073811435246DOI Listing
June 2012

Autoimmune polyendocrinopathy associated with ring chromosome 18.

J Pediatr Endocrinol Metab 2011 ;24(9-10):847-50

Department of Pediatrics, Division of Pediatric Endocrinology, CB#7039, 3341 MBRB, University of North Carolina, Chapel Hill, NC 27599-703, USA.

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http://dx.doi.org/10.1515/jpem.2011.320DOI Listing
January 2012

Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome.

Am J Perinatol 2010 Aug 19;27(7):559-63. Epub 2010 Feb 19.

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599-7516, USA.

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http://dx.doi.org/10.1055/s-0030-1248943DOI Listing
August 2010

Maternal body mass index and lifestyle exposures and the risk of bilateral renal agenesis or hypoplasia: the National Birth Defects Prevention Study.

Am J Epidemiol 2008 Dec 3;168(11):1259-67. Epub 2008 Oct 3.

UNC Kidney Center, University of North Carolina, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1093/aje/kwn248DOI Listing
December 2008

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Am J Med Genet A 2008 Jul;146A(14):1832-41

Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.32370DOI Listing
July 2008

Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.

Am J Med Genet A 2004 Feb;125A(1):67-72

McLendon Clinical Laboratories, Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27514, USA.

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http://dx.doi.org/10.1002/ajmg.a.20457DOI Listing
February 2004