Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Laurence Lohman"'
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
Autor:
Jared Byron, Philip T. Metzger, Roger Kuhns, Greg Rixon, Paul J. van Susante, Laurence Lohman, Manish Mehta, Tyler Roberson, Matthew Kuhns, Stefan Lamb, Wesley Chambers, Adrienne Dove
Publikováno v:
Earth and Space 2021.
Autor:
Jonathan Noble, Jared Byron, Adam Polizzi, Laurence Lohman, Jeremy Iten, Matthew Kuhns, Tyler Roberson, Stefan Lamb, Jabob Nuechterlein, Gregory Rixon
Publikováno v:
AIAA Propulsion and Energy 2019 Forum.
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
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, Vol 13, Iss 11, p 2027 (2022)
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://doaj.org/article/8d4a5b0e707f458b850367c28e3c1ef0
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
Autor:
Pascale Kleinfinger, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat, Véronique Debarge, Vanina Castaigne, Marie-Victoire Senat, Marie-Pierre Brechard, Lucie Guilbaud, Gwenaël Le Guyader, Véronique Satre, Hélène Laurichesse Delmas, Hakima Lallaoui, Marie-Christine Manca-Pellissier, Aicha Boughalem, Mylene Valduga, Farah Hodeib, Alexandra Benachi, Jean Marc Costa
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 8, 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://doaj.org/article/b5f35dddacca4ab0af649b5b2f2d5d06