Melissa A Parisi

Melissa A Parisi

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Melissa A Parisi

Melissa A Parisi

Publications by authors named "Melissa A Parisi"

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48Publications

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Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders.

Eur J Hum Genet 2019 Sep 19. Epub 2019 Sep 19.

Institute for Bioethics and Health Policy, Department of Human Genetics, Leonard M. Miller School of Medicine, University of Miami, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1038/s41431-019-0513-3DOI Listing
September 2019

Newborn Screening: Beyond the Spot.

Adv Exp Med Biol 2017 ;1031:323-346

Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Democracy 1, Room 9108, 6701 Democracy Boulevard, Bethesda, MD, 20892-4874, USA.

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http://dx.doi.org/10.1007/978-3-319-67144-4_19DOI Listing
June 2018

Compound heterozygous alterations in intraflagellar transport protein in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1101/mcs.a001321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495032PMC
July 2017

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.

Glob Heart 2015 Dec 11;10(4):337-40. Epub 2015 Aug 11.

National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.gheart.2015.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691406PMC
December 2015

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Anesthesia in a 12 year old boy with somatic overgrowth secondary to pericentric inversion of chromosome 12.

J Clin Anesth 2013 Mar 28;25(2):135-7. Epub 2012 Dec 28.

Department of Anesthesiology and Pain Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1016/j.jclinane.2012.06.014DOI Listing
March 2013

Ambiguous genitalia: what prenatal genetic testing is practical?

Am J Med Genet A 2012 Jun 11;158A(6):1337-43. Epub 2012 May 11.

Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/ajmg.a.35338DOI Listing
June 2012

We don't know what we don't study: the case for research on medication effects in pregnancy.

Am J Med Genet C Semin Med Genet 2011 Aug 15;157C(3):247-50. Epub 2011 Jul 15.

Intellectual and Developmental Disabilities Branch, Center for Developmental Biology and Perinatal Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 6100 Executive Boulevard, Bethesda, MD 20892-7510, USA.

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http://dx.doi.org/10.1002/ajmg.c.30309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140632PMC
August 2011

Clinical and molecular features of Joubert syndrome and related disorders.

Authors:
Melissa A Parisi

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):326-40

Center for Developmental Biology and Perinatal Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 6100 Executive Boulevard, Bethesda, MD 20892-7510, USA.

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http://dx.doi.org/10.1002/ajmg.c.30229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797758PMC
November 2009

Cilia and the ciliopathies: an introduction.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):261-2

Michigan State University's College of Human Medicine, MI, USA.

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http://dx.doi.org/10.1002/ajmg.c.30230DOI Listing
November 2009

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Am J Med Genet A 2009 Jun;149A(6):1237-40

Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1002/ajmg.a.32684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692642PMC
June 2009

A Gender Assessment Team: experience with 250 patients over a period of 25 years.

Genet Med 2007 Jun;9(6):348-57

Division of Genetics and Developmental Medicine, Department of Pediatrics, Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1097GIM.0b013e3180653c47DOI Listing
June 2007

Joubert syndrome (and related disorders) (OMIM 213300).

Eur J Hum Genet 2007 May 21;15(5):511-21. Epub 2007 Mar 21.

Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195-6320, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201648DOI Listing
May 2007

A case of true hermaphroditism reveals an unusual mechanism of twinning.

Hum Genet 2007 Apr 13;121(2):179-85. Epub 2006 Dec 13.

Department of Obstetrics and Gynecology, Banner Good Samaritan Medical Center, Phoenix, AZ 85006, USA.

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http://dx.doi.org/10.1007/s00439-006-0279-xDOI Listing
April 2007

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

Muscle Nerve 2007 Feb;35(2):254-8

Division of Pediatric Neurology, Department of Neurology, University of Washington, Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1002/mus.20662DOI Listing
February 2007

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

Am J Med Genet A 2006 Apr;140(8):804-12

Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/ajmg.a.31160DOI Listing
April 2006

Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.

J Pediatr Surg 2005 Nov;40(11):1760-5

Department of Pediatrics, Children's Hospital and Regional Medical Center and University of Washington, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1016/j.jpedsurg.2005.07.010DOI Listing
November 2005

Hox11L1 expression by precursors of enteric smooth muscle: an alternative explanation for megacecum in HOX11L1-/- mice.

Pediatr Dev Pathol 2005 Mar-Apr;8(2):148-61. Epub 2005 Apr 7.

Department of Pathology, Children's Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1007/s10024-005-1126-0DOI Listing
July 2005

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Prenat Diagn 2005 Jun;25(6):442-7

University of Washington/Children's Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA.

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http://dx.doi.org/10.1002/pd.1145DOI Listing
June 2005

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.

Am J Hum Genet 2005 Feb 10;76(2):340-8. Epub 2004 Dec 10.

Department of Pathology, Gynecology and Reproductive Biology, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1086/427565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196379PMC
February 2005

Human malformations of the midbrain and hindbrain: review and proposed classification scheme.

Mol Genet Metab 2003 Sep-Oct;80(1-2):36-53

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

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November 2004

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

Am J Med Genet A 2004 Mar;125A(2):117-24; discussion 117

Division of Genetics and Development, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1002/ajmg.a.20438DOI Listing
March 2004

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Am J Med Genet A 2004 03;125A(2):125-34; discussion 117

Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093-0624, USA.

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http://dx.doi.org/10.1002/ajmg.a.20437DOI Listing
March 2004

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

J Child Neurol 2004 Mar;19(3):214-8

Department of Pediatrics, University of Washington, School of Medicine, Seattle 98195, USA.

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March 2004

Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice.

Gastroenterology 2003 Nov;125(5):1428-40

Department of Pediatrics, University of Washington School of Medicine, Children's Hospital and Regional Medical Center, 4800 Sand Point Way NW, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1016/j.gastro.2003.08.021DOI Listing
November 2003

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex.

Genet Med 2003 May-Jun;5(3):154-60

Department of Internal Medicine, University of Washington, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1097/01.GIM.0000066795.92152.67DOI Listing
August 2003

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

Am J Med Genet 2002 May;109(4):271-7

Division of Genetics and Development, Children's Hospital and Regional Medical Center, University of Washington, PO Box 5371/CH-25, Seattle, WA 98105-0371, USA.

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http://dx.doi.org/10.1002/ajmg.10350DOI Listing
May 2002

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Am J Med Genet 2002 Feb;108(1):51-6

Division of Genetics and Development, Department of Pediatrics, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1002/ajmg.10185DOI Listing
February 2002