Publications by authors named "Margarita Raygada"

26Publications

Adrenocortical carcinoma masquerading as pheochromocytoma: a histopathologic dilemma.

Endocrinol Diabetes Metab Case Rep 2020 Jan 8;2020. Epub 2020 Jan 8.

Pediatric Oncology Branch, Rare Tumor Initiative, Center for Cancer Research, National Cancer Institute, Clinical Center.

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January 2020

Case Report of an Adrenocortical Carcinoma Associated With Germline Mutation.

J Endocr Soc 2019 Jan 12;3(1):284-290. Epub 2018 Dec 12.

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland.

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January 2019

Barakat syndrome revisited.

Am J Med Genet A 2018 06 16;176(6):1341-1348. Epub 2018 Apr 16.

Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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June 2018

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

J Cancer Res Clin Oncol 2017 Aug 3;143(8):1421-1435. Epub 2017 Apr 3.

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, 1E-3140, Bethesda, MD, 20892-1109, USA.

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August 2017

Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons.

Mol Neurobiol 2017 08 29;54(6):4507-4523. Epub 2016 Jun 29.

Laboratory of Clinical and Developmental Genomics, National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10 Center Drive, MSC 1255, Building 10, Room 1C-250, Bethesda, MD, 20892-1255, USA.

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August 2017

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

J Clin Res Pediatr Endocrinol 2016 12 18;8(4):468-471. Epub 2016 Apr 18.

Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Kayseri, Turkey, Phone: +90 352 207 66 66 E-mail:

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December 2016

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.

Endocrinol Diabetes Metab Case Rep 2016 7;2016:150104. Epub 2016 Jan 7.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA; Johns Hopkins University School of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Baltimore, Maryland, 21287, USA; Suburban Hospital, Bethesda, Maryland, 20814, USA.

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January 2016

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

Eur J Pediatr 2016 May 21;175(5):727-33. Epub 2016 Jan 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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May 2016

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

Eur J Hum Genet 2016 Apr 15;24(4):569-73. Epub 2015 Jul 15.

Section on Endocrinology and Genetics (SEGEN), Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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April 2016

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

Eur J Endocrinol 2015 06;172(6):803-11

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Building 10-CRC, Room 9D42, 10 Center Drive, MSC, 1103, Bethesda, Maryland 20892, USA

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June 2015

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

J Clin Endocrinol Metab 2015 May 19;100(5):E710-9. Epub 2015 Feb 19.

Section on Endocrinology and Genetics (P.X., E.S., S.A.M., P.M., M.R., N.R., M.d.L.L.S., C.L., E.B., M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Section on Medical Neuroendocrinology (P.B., A.G.), Program in Reproductive and Adult Endocrinology, Section on Molecular Dysmorphology (C.A.W., A.C.), Program in Developmental Endocrinology and Genetics, Microscopy and Imaging Core (L.D.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Laboratory of Pathology (A.G., M.Q., K.P.), National Cancer Institute, and Biostatistics and Clinical Epidemiology Service (D.K.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology (C.M.), University of Connecticut Health Center, Farmington, Connecticut 06030; Genomic Medicine Institute (J.M., C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Department of Biochemistry and Molecular Biology (L.J.M.), Mayo Clinic College of Medicine, Rochester, Minnesota 55905; and Department of Molecular Medicine (P.B.), Institute of Virology, Slovak Academy of Sciences, 833 06 Bratislava, Slovakia.

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May 2015

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.

Cortex 2013 Nov-Dec;49(10):2700-10. Epub 2013 Feb 19.

Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, USA; Section on Growth and Obesity, Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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July 2014

ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.

J Clin Endocrinol Metab 2012 Aug 10;97(8):E1557-66. Epub 2012 May 10.

Unit on Molecular Hormone Actio, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA.

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August 2012

Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders.

Gene 2012 Apr 26;496(2):88-96. Epub 2012 Jan 26.

Laboratory of Clinical and Developmental Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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April 2012

Hereditary paragangliomas.

Adv Otorhinolaryngol 2011 24;70:99-106. Epub 2011 Feb 24.

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May 2011

Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.

Pediatr Blood Cancer 2010 Jan;54(1):173-5

Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, MD 20892-1831, USA.

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January 2010

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

J Clin Endocrinol Metab 2007 Mar 2;92(3):779-86. Epub 2007 Jan 2.

Section on Medical Neuroendocrinology, Reproductive Biology and Medicine Branch, National Institute of Child Health and Human Development, 10 Center Drive, Building 10, CRC, Room 1-E 3140, MSC 1109, Bethesda, Maryland 20892-1109, USA.

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March 2007

A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome.

Fertil Steril 2005 Nov;84(5):1508

Section on Women's Health Research, Developmental Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892-1103, USA.

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November 2005

Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.

Ophthalmic Genet 2005 Sep;26(3):135-8

Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.

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September 2005