Zobrazeno 1 - 10
of 38
pro vyhledávání: '"a Sarquis Jehee"'
Autor:
Diane Van Opstal, Merryn V. E. Macville, Marjan Boter, Fernanda Sarquis Jehee, Shama Bhola, Malgorzata I. Srebniak, Robert van der Helm, Erik A. Sistermans, Nicolette S. den Hollander, Els Voorhoeve, Mariëtte J.V. Hoffer, Marieke Joosten, Walter G. de Valk
Publikováno v:
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. WILEY
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W G, van der Helm, R, Sistermans, E A, Voorhoeve, E, Bhola, S, Hoffer, M J V, den Hollander, N, Macville, M V E & van Opstal, D 2021, ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 11, pp. 2036-2043 . https://doi.org/10.1111/aogs.14256, https://doi.org/10.1111/aogs.14256
Acta Obstetricia et Gynecologica Scandinavica
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica, 100(11), 2036-2043. WILEY
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W G, van der Helm, R, Sistermans, E A, Voorhoeve, E, Bhola, S, Hoffer, M J V, den Hollander, N, Macville, M V E & van Opstal, D 2021, ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 11, pp. 2036-2043 . https://doi.org/10.1111/aogs.14256, https://doi.org/10.1111/aogs.14256
Acta Obstetricia et Gynecologica Scandinavica
Introduction: The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate wheth
Autor:
Geerke M. Eggenhuizen, Karin E. M. Diderich, Nicole van Koetsveld, Attie T.J.I. Go, Malgorzata I. Srebniak, Femke A. T. de Vries, Wai Yee Cheung, Diane Van Opstal, Lutgarde C.P. Govaerts, Walter G. de Valk, Robert-Jan H. Galjaard, Stefanie van Veen, Lies H. Hoefsloot, Maarten F. C. M. Knapen, Marieke Joosten, Marjan Boter, Fernanda Sarquis Jehee, Iris H.I.M. Hollink
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 40(10), 1338-1342. John Wiley & Sons Ltd.
Prenatal Diagnosis, 40(10), 1338-1342. John Wiley & Sons Ltd.
Autor:
Siulan Vendramini-Pittoli, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, David R. FitzPatrick, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, Lucilene Arilho Ribeiro-Bicudo, Fernanda Sarquis Jehee
Publikováno v:
J Pediatr Genet
Journal of Pediatric Genetics, 09(04), 258-262. Georg Thieme Verlag
Journal of Pediatric Genetics, 09(04), 258-262. Georg Thieme Verlag
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosu
Autor:
Erwin Brosens, Frank J. Magielsen, Anne Goverde, Linda Gaillard, Annelies de Klein, Fernanda Sarquis Jehee, Quincy C. C. van den Bosch, Danielle Veenma, Marieke F. van Dooren, Irene M.J. Mathijssen
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distin
Autor:
Fernando Victor Martins Rubatino, Adriana Aparecida Bosco, Karla Silva Fernandes, Fernanda Sarquis Jehee, Célio José de Castro Junior, Mariana Lacerda de Freitas, Leonardo Rossi de Oliveira, Luana Assis Ferreira
The Rab3A and Rab3gaps are essential to the Ca+2-dependent neuronal exocytosis in the hypothalamus. The arcuate nucleus of the hypothalamus (ARC) controls food intake and energy expenditure. We have earlier described that the high-fat diet (HFD) feed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6ee7afee5576c8fadb45e13e4ce806a
https://doi.org/10.1101/2021.09.10.459820
https://doi.org/10.1101/2021.09.10.459820
Autor:
Fernanda Sarquis Jehee, Madelief Overes, Siulan Vendramini-Pittoli, Cristiano Tonello, Rejane A.C. Monteiro, Roseli Maria Zechi-Ceide, Juliana F. Mazzeu, Roza Ali-Amin, Nancy Mizue Kokitsu-Nakata, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Lies H. Hoefsloot, Marjon van Slegtenhorst, Mariana Lacerda de Freitas
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A. Wiley-Liss Inc.
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A. Wiley-Liss Inc.
Here we report on a Brazilian child who presented semilobar holoprosencephaly, frontonasal encephaloceles and bilateral cleft lip and palate. Malformations also included agenesis of the corpus callosum, abnormal cortical gyres, dilation of the aquedu
Autor:
Aryane Mayra Fernandes, Mariana Lacerda de Freitas, Célio José de Castro Junior, Karla Fernandes, Luana Assis Ferreira, Nathalia Augusta de Oliveira Gomes, Leonardo Rossi de Oliveira, Adriana Aparecida Bosco, Fernanda Sarquis Jehee
Publikováno v:
Archives of Diabetes and Endocrine System. 2:1-8
Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion
Publikováno v:
Clinical Dysmorphology, 30(3), 130-136. Lippincott Williams & Wilkins
Interstitial deletions encompassing the 10q24.32q25.1 region are rare. Only three patients have been reported in literature to date. We describe a 44-year-old female with a 2.8 Mb microdeletion in 10q24.32q25.1. Clinical findings in this patient are
Alterations in transcript levels of hypothalamic endosomal recycling genes in high-fat diet-fed mice
Autor:
Karla Simone Fern, Cristina Moraes Junta, Fern, Célio José de Castro Junior, Mariana Lacerda de Freitas, a Sarquis Jehee, o Victor Martins Rubatino, Luana Assis Ferreira, Adriana Aparecida Bosco
Publikováno v:
Endocrinology&Metabolism International Journal. 6
Autor:
Fernanda Sarquis Jehee, N. V. Carobin, Rafaella X. Pietra, Fernando Victor Martins Rubatino, A. A. Bosco, Mariana Lacerda de Freitas, V. T. de Oliveira
Publikováno v:
Genetics and Molecular Research. 14:13791-13798
Genomic imprinting is an important epigenetic phenomenon, wherein genes or gene clusters are marked by DNA methylation during gametogenesis. This plays a major role in several functions of normal cells, including cell differentiation, X chromosome in