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Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 219, doi. 10.1002/ajmg.c.31903
By:
- Abbott, Mary‐Alice;
- Diebold, William J.;
- Rosengren, Sally S.
Publication type:
Article
Cover Image, Volume 176A, Number 4, April 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671
By:
- Zarate, Yuri A.;
- Smith‐Hicks, Constance L.;
- Greene, Carol;
- Abbott, Mary‐Alice;
- Siu, Victoria M.;
- Calhoun, Amy R. U. L.;
- Pandya, Arti;
- Li, Chumei;
- Sellars, Elizabeth A.;
- Kaylor, Julie;
- Bosanko, Katherine;
- Kalsner, Louisa;
- Basinger, Alice;
- Slavotinek, Anne M.;
- Perry, Hazel;
- Saenz, Margarita;
- Szybowska, Marta;
- Wilson, Louise C.;
- Kumar, Ajith;
- Brain, Caroline
Publication type:
Article
Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630
By:
- Zarate, Yuri A.;
- Smith‐Hicks, Constance L.;
- Greene, Carol;
- Abbott, Mary‐Alice;
- Siu, Victoria M.;
- Calhoun, Amy R. U. L.;
- Pandya, Arti;
- Li, Chumei;
- Sellars, Elizabeth A.;
- Kaylor, Julie;
- Bosanko, Katherine;
- Kalsner, Louisa;
- Basinger, Alice;
- Slavotinek, Anne M.;
- Perry, Hazel;
- Saenz, Margarita;
- Szybowska, Marta;
- Wilson, Louise C.;
- Kumar, Ajith;
- Brain, Caroline
Publication type:
Article
Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening.
Published in:
Pediatric Pulmonology, 2008, v. 43, n. 7, p. 648, doi. 10.1002/ppul.20842
By:
- Collins, Melanie Sue;
- Abbott, Mary-Alice;
- Wakefield, Dorothy B.;
- Lapin, Craig D.;
- Drapeau, Ginny;
- Hopfer, Sidney M.;
- Greenstein, Robert M.;
- Cloutier, Michelle M.
Publication type:
Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Published in:
Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
By:
- El-Hattab, Ayman W.;
- Smolarek, Teresa A.;
- Walker, Martha E.;
- Schorry, Elizabeth K.;
- Immken, LaDonna L.;
- Patel, Gayle;
- Abbott, Mary-Alice;
- Lanpher, Brendan C.;
- Zhishuo Ou;
- Kang, Sung-Hae L.;
- Patel, Ankita;
- Scaglia, Fernando;
- Lupski, James R.;
- Sau Wai Cheung;
- Stankiewicz, Pawel
Publication type:
Article
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
By:
- Hikmat, Omar;
- Isohanni, Pirjo;
- Keshavan, Nandaki;
- Ferla, Matteo P.;
- Fassone, Elisa;
- Abbott, Mary‐Alice;
- Bellusci, Marcello;
- Darin, Niklas;
- Dimmock, David;
- Ghezzi, Daniele;
- Houlden, Henry;
- Invernizzi, Federica;
- Kamarus Jaman, Nazreen B.;
- Kurian, Manju A.;
- Morava, Eva;
- Naess, Karin;
- Ortigoza‐Escobar, Juan Darío;
- Parikh, Sumit;
- Pennisi, Alessandra;
- Barcia, Giulia
Publication type:
Article
Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman.
Published in:
2022
By:
- Nouduri, Sirisha;
- Padmanabhan, Rajiv;
- Hicks, Richard;
- Abbott, Mary-Alice;
- O’Brien, Dennis;
- Schlaug, Gottfried
Publication type:
Case Study
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
By:
- Stevens, Servi J. C.;
- Stumpel, Constance T. R. M.;
- Diderich, Karin E. M.;
- van Slegtenhorst, Marjon A.;
- Abbott, Mary‐Alice;
- Manning, Courtney;
- Balciuniene, Jorune;
- Pyle, Louise C.;
- Leonard, Jacqueline;
- Murrell, Jill R.;
- van de Putte, Romy;
- van Rooij, Iris A. L. M.;
- Hoischen, Alexander;
- Lasko, Paul;
- Brunner, Han G.
Publication type:
Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Published in:
2021
By:
- Hüffmeier, Ulrike;
- Kraus, Cornelia;
- Reuter, Miriam S.;
- Uebe, Steffen;
- Abbott, Mary-Alice;
- Ahmed, Syed A.;
- Rawson, Kristyn L.;
- Barr, Eileen;
- Li, Hong;
- Bruel, Ange-Line;
- Faivre, Laurence;
- Tran Mau-Them, Frédéric;
- Botti, Christina;
- Brooks, Susan;
- Burns, Kaitlyn;
- Ward, D. Isum;
- Dutra-Clarke, Marina;
- Martinez-Agosto, Julian A.;
- Lee, Hane;
- Nelson, Stanley F.
Publication type:
journal article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
By:
- Ng, Bobby G.;
- Eklund, Erik A.;
- Shiryaev, Sergey A.;
- Dong, Yin Y.;
- Abbott, Mary‐Alice;
- Asteggiano, Carla;
- Bamshad, Michael J.;
- Barr, Eileen;
- Bernstein, Jonathan A.;
- Chelakkadan, Shabeed;
- Christodoulou, John;
- Chung, Wendy K.;
- Ciliberto, Michael A.;
- Cousin, Janice;
- Gardiner, Fiona;
- Ghosh, Suman;
- Graf, William D.;
- Grunewald, Stephanie;
- Hammond, Katherine;
- Hauser, Natalie S.
Publication type:
Article
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
By:
- Hale, Jaime E.;
- Darras, Basil T.;
- Swoboda, Kathryn J.;
- Estrella, Elicia;
- Jin Yun Helen Chen;
- Abbott, Mary-Alice;
- Hay, Beverly N.;
- Kumar, Binod;
- Counihan, Anne M.;
- Gerstel-Thompson, Jacalyn;
- Sahai, Inderneel;
- Eaton, Roger B.;
- Comeau, Anne Marie
Publication type:
Article
Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1671, doi. 10.1002/pd.6472
By:
- Rich, Matthew;
- Schroeder, Bradley;
- Manning, Courtney;
- Abbott, Mary‐Alice
Publication type:
Article
Front Cover, Volume 40, Issue 11.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. i, doi. 10.1002/humu.23934
By:
- Reuser, Arnold J. J.;
- Ploeg, Ans T.;
- Chien, Yin‐Hsiu;
- Llerena, Juan;
- Abbott, Mary‐Alice;
- Clemens, Paula R.;
- Kimonis, Virginia E.;
- Leslie, Nancy;
- Maruti, Sonia S.;
- Sanson, Bernd‐Jan;
- Araujo, Roberto;
- Periquet, Magali;
- Toscano, Antonio;
- Kishnani, Priya S.;
- on behalf of the Pompe Registry Sites
Publication type:
Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2146, doi. 10.1002/humu.23878
By:
- Reuser, Arnold J. J.;
- Ploeg, Ans T.;
- Chien, Yin‐Hsiu;
- Llerena, Juan;
- Abbott, Mary‐Alice;
- Clemens, Paula R.;
- Kimonis, Virginia E.;
- Leslie, Nancy;
- Maruti, Sonia S.;
- Sanson, Bernd‐Jan;
- Araujo, Roberto;
- Periquet, Magali;
- Toscano, Antonio;
- Kishnani, Priya S.;
- on behalf of the Pompe Registry Sites
Publication type:
Article
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Published in:
Human Mutation, 2015, v. 36, n. 11, p. 1052, doi. 10.1002/humu.22832
By:
- Rojnueangnit, Kitiwan;
- Xie, Jing;
- Gomes, Alicia;
- Sharp, Angela;
- Callens, Tom;
- Chen, Yunjia;
- Liu, Ying;
- Cochran, Meagan;
- Abbott, Mary‐Alice;
- Atkin, Joan;
- Babovic‐Vuksanovic, Dusica;
- Barnett, Christopher P.;
- Crenshaw, Melissa;
- Bartholomew, Dennis W.;
- Basel, Lina;
- Bellus, Gary;
- Ben‐Shachar, Shay;
- Bialer, Martin G.;
- Bick, David;
- Blumberg, Bruce
Publication type:
Article

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