Marilyn C Jones

Marilyn C Jones

UNVERIFIED PROFILE

Are you Marilyn C Jones?   Register this Author

Register author
Marilyn C Jones

Marilyn C Jones

Publications by authors named "Marilyn C Jones"

Are you Marilyn C Jones?   Register this Author

44Publications

1072Reads

48Profile Views

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 Jan 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
January 2020

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

Clin Dysmorphol 2019 Oct;28(4):175-183

Department of Pediatrics, Division of Genetics and Dysmorphology, UC San Diego/Rady Children's Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000282DOI Listing
October 2019

Whole-exome sequencing reveals novel variant in female fetus with isolated agenesis of the corpus callosum.

Clin Case Rep 2019 Apr 19;7(4):656-660. Epub 2019 Feb 19.

Division of Genetics, Department of Pediatrics University of California San Diego California.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.2051
Publisher Site
http://dx.doi.org/10.1002/ccr3.2051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501PMC
April 2019

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.

Am J Med Genet A 2018 12 14;176(12):2824-2828. Epub 2018 Dec 14.

Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40532
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40532DOI Listing
December 2018

A fetal diagnostic center's referral rate for perinatal palliative care.

Ann Palliat Med 2018 Apr 4;7(2):177-185. Epub 2017 May 4.

UCSD Maternal-Fetal Care and Genetics, CA, USA; Department of Radiology, UC San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21037/apm.2017.03.12DOI Listing
April 2018

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Genet Med 2017 10 6;19(10):1179-1183. Epub 2017 Apr 6.

The Scripps Translational Science Institute, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629099PMC
October 2017

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.

J Ultrasound Med 2017 Aug 18;36(8):1657-1668. Epub 2017 Apr 18.

Maternal-Fetal Care and Genetics Center, University of California, San Diego, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/ultra.16.06081DOI Listing
August 2017

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Am J Med Genet A 2017 Jun 6;173(6):1586-1592. Epub 2017 Apr 6.

Department of Pediatrics, University of California San Diego and Rady Children's Hospital - San Diego, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933242PMC
June 2017

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Am J Med Genet A 2016 Apr 5;170A(4):992-8. Epub 2016 Jan 5.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011457PMC
April 2016

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Am J Med Genet A 2015 Oct 11;167A(10):2440-3. Epub 2015 Jun 11.

Division of Genetics, Department of Pediatrics, University of California, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37203DOI Listing
October 2015

The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting.

Am J Med Genet A 2015 Jul 30;167(7):1455-73. Epub 2015 Mar 30.

Stowers Institute for Medical Research, Kansas City, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37012DOI Listing
July 2015

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

Case Rep Genet 2014 3;2014:508231. Epub 2014 Feb 3.

University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA ; Department of Human Genetics, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2014/508231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930135PMC
March 2014

Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies.

J Ultrasound Med 2014 Jan;33(1):167-76

Thornton Hospital, 9300 Campus Point Dr, 7756, La Jolla, CA 92037 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/ultra.33.1.167DOI Listing
January 2014

Growth charts for 22q11 deletion syndrome.

Am J Med Genet A 2012 Nov 6;158A(11):2672-81. Epub 2012 Aug 6.

Department of Pediatric Neurology, Miami Children's Hospital, Miami, Florida, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35485DOI Listing
November 2012

Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.

J Pediatr 2012 Apr 1;160(4):645-650.e2. Epub 2011 Nov 1.

Center for Human Genetics, University Hospitals Case Medical Center and the Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2011.09.021DOI Listing
April 2012

Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern.

J Ultrasound Med 2011 Jul;30(7):1009-19

Department of Radiology, University of California, San Diego Medical Center, 9300 Campus Point Dr, La Jolla, CA 92037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/jum.2011.30.7.1009DOI Listing
July 2011

Evaluation of the fetal secondary palate by 3-dimensional ultrasonography.

J Ultrasound Med 2010 Mar;29(3):357-64

Department of Reproductive Medicine, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/jum.2010.29.3.357DOI Listing
March 2010

Developing a national collaborative study system for rare genetic diseases.

Genet Med 2008 May;10(5):325-9

American College of Medical Genetics, Bethesda, Maryland 20814, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e31817b80fdDOI Listing
May 2008

Expanding the phenotype of mosaic trisomy 20.

Am J Med Genet A 2008 Feb;146A(3):330-6

Department of Pediatrics, University of California, San Diego, California 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32126DOI Listing
February 2008

Brain anomalies in encephalocraniocutaneous lipomatosis.

Am J Med Genet A 2007 Dec;143A(24):2963-72

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32074DOI Listing
December 2007

Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population.

Ophthalmic Plast Reconstr Surg 2007 Mar-Apr;23(2):126-9

Division of Ophthalmic Plastic and Reconstructive Surgery, Department of Ophthalmology, Shiley Eye Center, University of California, San Diego, La Jolla, California 92093-0946, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0b013e318031d807DOI Listing
April 2007

Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation.

J Pediatr 2005 Apr;146(4):565-7

Department of Pediatrics, Division of Medical Genetics, University of California-San Francisco, San Francisco, CA, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002234760401173
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2004.12.021DOI Listing
April 2005

Developmental outcome in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):263-4

Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30338
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30338DOI Listing
January 2005

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Am J Med Genet A 2005 Jan;132A(3):314-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30286DOI Listing
January 2005

Marfanoid habitus with abnormal situs.

Am J Med Genet A 2004 Jun;127A(3):310-2

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30022
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30022DOI Listing
June 2004

Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling.

Authors:
Marilyn C Jones

Cleft Palate Craniofac J 2002 Mar;39(2):169-73

Sharp-Children's Prenatal Diagnostic Center and Cleft Palate and Craniofacial Treatment Programs, Children's Hospital, San Diego, CA 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/1545-1569_2002_039_0169_pdocla_2.0.co_2DOI Listing
March 2002

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

Am J Med Genet 2002 Feb;108(1):80-7

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10241DOI Listing
February 2002