Publications by authors named "Mary-Alice Abbott"

15Publications

Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: A case report.

Cancer Genet 2020 Jun 4;244:62-64. Epub 2020 May 4.

Department of Pediatrics, Baystate Children's Hospital/University of Massachusetts Medical School, Springfield, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2020.04.003DOI Listing
June 2020

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

JIMD Rep 2017 14;32:25-32. Epub 2016 Jun 14.

Department of Pediatrics, Baystate Children's Hospital, Springfield, MA, 01199, USA.

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http://dx.doi.org/10.1007/8904_2016_547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355379PMC
June 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Cleft lip and palate.

Pediatr Rev 2014 May;35(5):177-81

Department of Pediatrics, Division of Medical Genetics, Tufts University School of Medicine, Baystate Medical Center, Springfield, MA.

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http://dx.doi.org/10.1542/pir.35-5-177DOI Listing
May 2014

Atypical immunologic response in a patient with CRIM-negative Pompe disease.

Mol Genet Metab 2011 Dec 11;104(4):583-6. Epub 2011 Aug 11.

Medical Genetics, Baystate Medical Center, Springfield, MA 01199, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711241PMC
December 2011

Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening.

Pediatr Pulmonol 2008 Jul;43(7):648-55

Department of Pediatrics, Connecticut Children's Medical Center, Hartford, Connecticut 06106, USA.

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http://dx.doi.org/10.1002/ppul.20842DOI Listing
July 2008

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

Am J Med Genet A 2006 Apr;140(7):685-90

Division of Human Genetics, University of Connecticut Health Center, Farmington, Connecticut 06119, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31116
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http://dx.doi.org/10.1002/ajmg.a.31116DOI Listing
April 2006

Liver-intestine transplant from a pediatric donor with unrecognized mitochondrial succinate cytochrome C reductase deficiency.

Transplantation 2005 Feb;79(3):356-8

Division of Pediatric Critical Care, Connecticut Children's Medical Center, Hartford, CT, USA.

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http://dx.doi.org/10.1097/01.tp.0000151659.89391.24DOI Listing
February 2005

Prenatal genetic diagnosis of Down's syndrome.

Expert Rev Mol Diagn 2002 Nov;2(6):605-15

Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA.

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http://dx.doi.org/10.1586/14737159.2.6.605DOI Listing
November 2002