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2010

A novel microdeletion/microduplication syndrome of 19p13.13

Dolan, M. M., Mendelsohn, N. J., Pierpont, M. E. M., Schimmenti, L. A., Berry, S. A. & Hirsch, B. A., Aug 1 2010, In : Genetics in Medicine. 12, 8, p. 503-511 9 p.

Research output: Contribution to journalArticle

33 Scopus citations

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

Sarafoglou, K., Tridgell, A. H. C., Bentler, K., Redlinger-Grosse, K., Berry, S. A. & Schimmenti, L. A., Aug 1 2010, In : Clinical Genetics. 78, 2, p. 191-194 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

Long-term follow-up of newborn screening patients

Berry, S. A., Lloyd-Puryear, M. A. & Watson, M. S., Dec 1 2010, In : Genetics in Medicine. 12, 12 SUPPL

Research output: Contribution to journalArticle

9 Scopus citations

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control

Lee, B., Rhead, W., Diaz, G. A., Scharschmidt, B. F., Mian, A., Shchelochkov, O., Marier, J. F., Beliveau, M., Mauney, J., Dickinson, K., Martinez, A., Gargosky, S., Mokhtarani, M. & Berry, S. A., Jul 1 2010, In : Molecular Genetics and Metabolism. 100, 3, p. 221-228 8 p.

Research output: Contribution to journalArticle

57 Scopus citations

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup

Berry, S. A., Jurek, A. M., Anderson, C. & Bentler, K., Dec 1 2010, In : Genetics in Medicine. 12, 12 SUPPL, p. S215-S219

Research output: Contribution to journalArticle

10 Scopus citations
2009

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota

Sarafoglou, K., Bentler, K., Gaviglio, A., Redlinger-Grosse, K., Anderson, C., McCann, M., Bloom, B., Babovic-Vuksanovic, D., Gavrilov, D. & Berry, S. A., Dec 2009, In : Journal of Inherited Metabolic Disease. 32, SUPPL. 1, p. S169-S173

Research output: Contribution to journalArticle

11 Scopus citations
2008

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: A case report of nonclassical homocystinuria

Bishop, L., Kanoff, R., Charnas, L., Krenzel, C., Berry, S. A. & Schimmenti, L. A., Jul 1 2008, In : Journal of Child Neurology. 23, 7, p. 823-828 6 p.

Research output: Contribution to journalArticle

11 Scopus citations
2007

Expanded newborn screening identifies maternal primary carnitine deficiency

Schimmenti, L. A., Crombez, E. A., Schwahn, B. C., Heese, B. A., Wood, T. C., Schroer, R. J., Bentler, K., Cederbaum, S., Sarafoglou, K., McCann, M., Rinaldo, P., Matern, D., di San Filippo, C. A., Pasquali, M., Berry, S. A. & Longo, N., Apr 1 2007, In : Molecular Genetics and Metabolism. 90, 4, p. 441-445 5 p.

Research output: Contribution to journalArticle

69 Scopus citations

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

Enns, G. M., Berry, S. A., Berry, G. T., Rhead, W. J., Brusilow, S. W. & Hamosh, A., May 31 2007, In : New England Journal of Medicine. 356, 22, p. 2282-2292 11 p.

Research output: Contribution to journalArticle

236 Scopus citations
2006

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Del Gaudio, D., Fang, P., Scaglia, F., Ward, P. A., Craigen, W. J., Glaze, D. G., Neul, J. L., Patel, A., Lee, J. A., Irons, M., Berry, S. A., Pursley, A. A., Grebe, T. A., Freedenberg, D., Martin, R. A., Hsich, G. E., Khera, J. R., Friedman, N. R., Zoghbi, H. Y., Eng, C. M. & 4 others, Lupski, J. R., Beaudet, A. L., Cheung, S. W. & Roa, B. B., Dec 1 2006, In : Genetics in Medicine. 8, 12, p. 784-792 9 p.

Research output: Contribution to journalArticle

206 Scopus citations
2004

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

Ensenauer, R., Vockley, J., Willard, J. M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H. G., Marquardt, I., Rinaldo, P., Hahn, S. & Matern, D., Dec 2004, In : American Journal of Human Genetics. 75, 6, p. 1136-1142 7 p.

Research output: Contribution to journalArticle

98 Scopus citations
2003

A case of Satoyoshi syndrome: A multisystem disorder

Kamat, D., Petry, L. & Berry, S., Oct 2003, In : Clinical Pediatrics. 42, 8, p. 745-748 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

Prospective diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry

Matern, D., He, M., Berry, S. A., Rinaldo, P., Whitley, C. B., Madsen, P. P., Van Calcar, S. C., Lussky, R. C., Andresen, B. S., Wolff, J. A. & Vockley, J., Jul 1 2003, In : Pediatrics. 112, 1 I, p. 74-78 5 p.

Research output: Contribution to journalArticle

48 Scopus citations
2002

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Gupta, P. A., Putnam, E. A., Carmical, S. G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S. A., Chen, E., Delorme, C. V., Thong, M. K., Adès, L. C. & Milewicz, D. M., Jan 12 2002, In : Human mutation. 19, 1, p. 39-48 10 p.

Research output: Contribution to journalArticle

91 Scopus citations
2001

Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome

Krishnamurti, L., Neglia, J. P., Nagarajan, R., Berry, S. A., Lohr, J., Hirsch, B. & White, J. G., Mar 24 2001, In : American Journal of Hematology. 66, 4, p. 295-299 5 p.

Research output: Contribution to journalArticle

56 Scopus citations
2000

Growth hormone action in hypothyroid infant rats

Humbert, J. T., Bergad, P. L., Masha, O., Stolz, A. M., Kaul, S. & Berry, S. A., Feb 1 2000, In : Pediatric Research. 47, 2, p. 250-255 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Hepatic growth hormone signaling in the late gestation fetal rat

Phornphutkul, C., Frick, G. P., Goodman, H. M., Berry, S. A. & Gruppuso, P. A., Jan 1 2000, In : Endocrinology. 141, 10, p. 3527-3533 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

Inhibition of growth hormone action in models of inflammation

Bergad, P. L., Schwarzenberg, S. J., Humbert, J. T., Morrison, M., Amarasinghe, S., Towle, H. C. & Berry, S. A., Dec 28 2000, In : American Journal of Physiology - Cell Physiology. 279, 6 48-6

Research output: Contribution to journalArticle

51 Scopus citations

Yin-yang 1 and glucocorticoid receptor participate in the Stat5-mediated growth hormone response of the serine protease inhibitor 2.1 gene

Bergad, P. L., Towle, H. C. & Berry, S. A., Mar 17 2000, In : Journal of Biological Chemistry. 275, 11, p. 8114-8120 7 p.

Research output: Contribution to journalArticle

26 Scopus citations
1999

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia

Zhou, G., Chen, Y., Zhou, L., Thirunavukkarasu, K., Hecht, J., Chitayat, D., Gelb, B. D., Pirinen, S., Berry, S. A., Greenberg, C. R., Karsenty, G. & Lee, B., Nov 19 1999, In : Human molecular genetics. 8, 12, p. 2311-2316 6 p.

Research output: Contribution to journalArticle

164 Scopus citations

Definition of a high affinity growth hormone DNA response element

Bergad, P. L., Towle, H. C. & Berry, S. A., Apr 25 1999, In : Molecular and Cellular Endocrinology. 150, 1-2, p. 151-159 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Increased placental iron regulatory protein-1 expression in diabetic pregnancies complicated by fetal iron deficiency

Georgieff, M. K., Berry, S. A., Wobken, J. D. & Leibold, E. A., Jan 1999, In : Placenta. 20, 1, p. 87-93 7 p.

Research output: Contribution to journalArticle

29 Scopus citations

Regulation of Spi 2.1 and 2.2 gene expression after turpentine inflammation: Discordant responses to IL-6

Berry, S. A., Bergad, P. L., Stolz, A. M., Towle, H. C. & Schwarzenberg, S. J., Jan 1 1999, In : American Journal of Physiology - Cell Physiology. 276, 6 45-6, p. C1374-C1382

Research output: Contribution to journalArticle

11 Scopus citations
1998

Klippel-Trenaunay syndrome

Berry, S. A., Peterson, C., Mize, W., Bloom, K., Zachary, C., Blasco, P. & Hunter, D., Oct 2 1998, In : American Journal of Medical Genetics. 79, 4, p. 319-326 8 p.

Research output: Contribution to journalArticle

152 Scopus citations
1997
32 Scopus citations

Mosaicism for deletion 1p36.33 in a Patient with obesity and hyperphagia

Eugster, E. A., Berry, S. A. & Hirsch, B. A., Jun 27 1997, In : American Journal of Medical Genetics. 70, 4, p. 409-412 4 p.

Research output: Contribution to journalArticle

28 Scopus citations

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations

Wexler, I. D., Hemalatha, S. G., McConnell, J., Buist, N. R. M., Dahl, H. H. M., Berry, S. A., Cederbaum, S. D., Patel, M. S. & Kerr, D. S., Dec 1997, In : Neurology. 49, 6, p. 1655-1661 7 p.

Research output: Contribution to journalArticle

158 Scopus citations
1996

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

Ahrens, M. J., Berry, S. A., Whitley, C. B., Markowitz, D. J., Plante, R. J. & Tuchman, M., Dec 18 1996, In : American Journal of Medical Genetics. 66, 3, p. 311-315 5 p.

Research output: Contribution to journalArticle

14 Scopus citations

Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm

Reish, O., Berry, S. A., Dewald, G. & King, R. A., Jan 2 1996, In : American Journal of Medical Genetics. 61, 1, p. 21-25 5 p.

Research output: Contribution to journalArticle

26 Scopus citations

Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild hunter syndrome (mucopolysaccharidosis type II)

Whitley, CB., McIvor, RS., Aronovich, EL., Berry, SA., Blazar, BR., Burger, SR., Kersey, JH., King, RA., Faras, AJ., Latchaw, RE., McCullough, J., Pan, D., Ramsay, N. K. C. & Stroncek, DF., Mar 1 1996, In : Human gene therapy. 7, 4, p. 537-549

Research output: Contribution to journalArticle

31 Scopus citations
1995

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

Röschinger, W., Millington, D. S., Gage, D. A., Huang, Z. H., Iwamoto, T., Yano, S., Packman, S., Johnston, K., Berry, S. A. & Sweetman, L., Aug 31 1995, In : Clinica Chimica Acta. 240, 1, p. 35-51 17 p.

Research output: Contribution to journalArticle

23 Scopus citations

Congenital cardiac malformations in offspring of mothers with phenylketonuria and hyperphenylalaninemia

Pierpont, M. E. M., Sletten, L. J., Smith, C. F., Berry, H., Berry, S. A. & Fisch, R. O., Jan 1 1995, In : International Pediatrics. 10, 3, p. 242-249 8 p.

Research output: Contribution to journalArticle

1 Scopus citations
107 Scopus citations

Growth hormone rapidly activates rat serine protease inhibitor 2.1 gene transcription and induces a DNA-binding activity distinct from those of Stat1, -3, and -4

Thomas, M. J., Gronowski, A. M., Berry, S. A., Bergad, P. L. & Rotwein, P., Jan 1995, In : Molecular and cellular biology. 15, 1, p. 12-18 7 p.

Research output: Contribution to journalArticle

37 Scopus citations
46 Scopus citations
42 Scopus citations
1994

Binding of a growth hormone-inducible nuclear factor is mediated by tyrosine phosphorylation

Berry, S. A., Bergad, P. L., Whaley, C. D. R. & Towle, H. C., Dec 1994, In : Molecular Endocrinology. 8, 12, p. 1714-1719 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Infant with multiple congenital anomalies and deletion (9)(q34.3)

Schimmenti, L. A., Berry, S. A., Tuchman, M. & Hirsch, B., May 31 1994, In : American Journal of Medical Genetics. 51, 2, p. 140-142 3 p.

Research output: Contribution to journalArticle

24 Scopus citations
1993

Expression of growth hormone-responsive serpin mRNAs in perinatal rat liver

Berry, S. A., Bergad, P. L. & Bundy, M. V., Jan 1 1993, In : American Journal of Physiology - Endocrinology and Metabolism. 264, 6 27-6

Research output: Contribution to journalArticle

9 Scopus citations

Germ cell localization of a testicular growth hormonereleasing hormone-like factor

Srivastava, C. H., Collard, M. W., Rothrock, J. K., Peredo, M. J., Berry, S. A. & Pescovitz, O. H., Jul 1993, In : Endocrinology. 133, 1, p. 83-89 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

Hepatic fatty acid-binding protein mrna is regulated by growth hormone

Berry, S. A., Yoon, J. B., Seelig, S. & List, J., Dec 1 1993, In : Journal of the American College of Nutrition. 12, 6, p. 638-642 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

National Neurofibromatosis Foundation International Database

Friedman, J. M., Birch, P., Greene, C., Berry, S., King, R., Burke, W., Bennett, R., De Campos, J. M., Huson, S., Korf, B., Krause, W., Armfield, K., Niimura, M., Inaba, Y., North, K., Ortenberg, J., Der Kaloustian, V., Poyhonen, M. & Rubenstein, A., Jan 20 1993, In : American Journal of Medical Genetics. 45, 1, p. 88-91 4 p.

Research output: Contribution to journalArticle

36 Scopus citations

Neurofibromatosis: Phenotype, natural history and pathogenesis, 2nd edition

Berry, S. A., Oct 1993, In : Neurosurgery. 33, 4, 1 p.

Research output: Contribution to journalArticle

Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia

Tuchman, M., Berry, S. A., Thuy, L. P. & Nyhan, W. L., Jan 1 1993, In : Pediatrics. 91, 3, p. 664-666 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

Kaler, S. G., Ghal, W. A., Berry, S. A., Holmes, C. S. & Goldstein, D. S., Sep 1 1993, In : Journal of Inherited Metabolic Disease. 16, 5, p. 907-908 2 p.

Research output: Contribution to journalArticle

29 Scopus citations
1992

A mutation in the Eiα subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

Wexler, I. D., Hemalatha, S. G., Liu, T. C., Berry, S. A., Kerr, D. S. & Patel, M. S., Aug 1992, In : Pediatric Research. 32, 2, p. 169-174 6 p.

Research output: Contribution to journalArticle

27 Scopus citations

Cockayne Syndrome: Review of 140 cases

Nance, M. A. & Berry, S. A., Jan 1 1992, In : American Journal of Medical Genetics. 42, 1, p. 68-84 17 p.

Research output: Contribution to journalArticle

556 Scopus citations

Discoordinate hormonal and ontogenetic regulation of four rat serpin genes

Schwarzenberg, S. J., Yoon, J. B., Seelig, S., Potter, C. J. & Berry, S. A., Jan 1 1992, In : American Journal of Physiology - Cell Physiology. 262, 5 31-5, p. C1144-C1148

Research output: Contribution to journalArticle

5 Scopus citations

Growth hormone-releasing hormone-like messenger ribonucleic acid and immunoreactive peptide are present in human testis and placenta

Berry, S. A., Srivastava, C. H., Rubin, L. R., Phipps, W. R. & Pescovitz, O. H., Jul 1992, In : Journal of Clinical Endocrinology and Metabolism. 75, 1, p. 281-284 4 p.

Research output: Contribution to journalArticle

60 Scopus citations

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism

Tuchman, M., Holzknecht, R. A., Gueron, A. B., Berry, S. A. & Tsai, M. Y., Nov 1992, In : Pediatric Research. 32, 5, p. 600-604 5 p.

Research output: Contribution to journalArticle

34 Scopus citations