Výsledky vyhledávání - "Pascale, Kleinfinger"

Akademický článek

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain

Autor: Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his

Externí odkaz: https://doaj.org/article/75404f07759d4b46944b978c0e7573c8

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Akademický článek

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

Autor: Pascale Kleinfinger, Marie Brechard, Armelle Luscan, Detlef Trost, Aicha Boughalem, Mylene Valduga, Stéphane Serero DR, Jean-Marc Costa, Laurence Lohmann

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases. They are associated with variable phenotypes,

Externí odkaz: https://doaj.org/article/b231cdc0ff7e48249479098811482fc3

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Akademický článek

Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes

Autor: Tamara Mossfield, Erica Soster, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Monika Jurkowska, Pascale Kleinfinger, Kelly Loggenberg, Pablo Marchili, Roberto Sirica, on behalf of the Global Expanded NIPT Consortium

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically used to screen for common fetal trisomies, with optional screening for sex chromosomal aneuploidies and fetal sex. Genome-wide cfDNA screening can screen for

Externí odkaz: https://doaj.org/article/563126c106e74772acf05d567fbd0f6f

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Akademický článek

Autoimmune disorders but not heparin are associated with cell-free fetal DNA test failure

Autor: Yohann Dabi, Sarah Guterman, Jacques C. Jani, Alexandra Letourneau, Adèle Demain, Pascale Kleinfinger, Laurence Lohmann, Jean-Marc Costa, Alexandra Benachi

Publikováno v: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-9 (2018)

Abstract Background Recent studies have suggested a possible association between heparin treatment at the time of cell-free DNA (cfDNA) testing and a non-reportable result. However, these studies lack of proper methodology and had a low level of proo

Externí odkaz: https://doaj.org/article/a71c4f43097e422987441303902b3088

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Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin

Autor: Pascale Kleinfinger, Armelle Luscan, Léa Descourvieres, Daniela Buzas, Aicha Boughalem, Stéphane Serero, Mylène Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann

Publikováno v: Genes. 13(11)

A vanishing twin (VT) occurs in up to 30% of early diagnosed twin pregnancies and is associated with an increased risk of fetal aneuploidy. Here, we describe our experience in a large VT population of 847 patients that underwent noninvasive prenatal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63fcf73c240e27c3a3e04964ca380d06
https://pubmed.ncbi.nlm.nih.gov/36360264

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Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study

Publikováno v: American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (6), pp.676.e1-676.e15. ⟨10.1016/j.ajog.2021.05.035⟩

International audience; Background: Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications. However, evidence is still lacking on the clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e5adee5c800b8cd1e46765bb0ef9f6
https://www.hal.inserm.fr/inserm-03617447

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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Publikováno v: Journal of Clinical Medicine
Volume 9
Issue 8
Journal of Clinical Medicine, MDPI, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, 2020, 9 (8), pp.2466. ⟨10.3390/jcm9082466⟩
Journal of Clinical Medicine, Vol 9, Iss 2466, p 2466 (2020)

Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (AC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f941a9fe27852c628d21cd863d2c614

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