Borghese R - Search Results

1

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T. Cogan G, et al. Among authors: borghese r. Mol Genet Genomic Med. 2023 Sep;11(9):e2219. doi: 10.1002/mgg3.2219. Epub 2023 Jun 23. Mol Genet Genomic Med. 2023. PMID: 37353886 Free PMC article. Review.

2

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

Vachin P, Adda-Herzog E, Chalouhi G, Elie C, Rio M, Rondeau S, Gigarel N, Jabot Hanin F, Monnot S, Borghese R, Bengoa J, Ville Y, Rotig A, Munnich A, Bonnefont JP, Steffann J. Vachin P, et al. Among authors: borghese r. J Med Genet. 2018 Feb;55(2):131-136. doi: 10.1136/jmedgenet-2017-104615. Epub 2017 Jul 28. J Med Genet. 2018. PMID: 28754700

3

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.

Steffann J, Monnot S, Magen M, Assouline Z, Gigarel N, Ville Y, Salomon L, Bessiere B, Martinovic J, Rötig A, Bengoa J, Borghèse R, Munnich A, Barcia G, Bonnefont JP. Steffann J, et al. Among authors: borghese r. Genet Med. 2021 Apr;23(4):720-731. doi: 10.1038/s41436-020-01043-3. Epub 2020 Dec 11. Genet Med. 2021. PMID: 33303968 Free article.

4

Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.

Dervin T, Ranisavjevic N, Laot L, Mayeur A, Duperier C, Steffann J, Borghese R, Stoppa-Lyonnet D, Frydman N, Benachi A, Sonigo C, Grynberg M. Dervin T, et al. Among authors: borghese r. J Assist Reprod Genet. 2023 Jun;40(6):1381-1390. doi: 10.1007/s10815-023-02798-9. Epub 2023 May 8. J Assist Reprod Genet. 2023. PMID: 37154838 Free PMC article.

5

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

Steffann J, Michot C, Borghese R, Baptista-Fernandes M, Monnot S, Bonnefont JP, Munnich A. Steffann J, et al. Among authors: borghese r. Eur J Hum Genet. 2014 May;22(5):711-2. doi: 10.1038/ejhg.2013.164. Epub 2013 Sep 11. Eur J Hum Genet. 2014. PMID: 24022303 Free PMC article.

6

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

Steffann J, Gigarel N, Samuels DC, Monnot S, Borghese R, Hesters L, Frydman N, Burlet P, Frydman R, Benachi A, Rotig A, Munnich A, Bonnefont JP. Steffann J, et al. Among authors: borghese r. Cell Rep. 2014 May 22;7(4):933-4. doi: 10.1016/j.celrep.2014.05.005. Cell Rep. 2014. PMID: 24856293 Free article. No abstract available.

7

Structural and electrochemical characterization of lawsone-dependent production of tellurium-metal nanoprecipitates by photosynthetic cells of Rhodobacter capsulatus.

Borghese R, Malferrari M, Brucale M, Ortolani L, Franchini M, Rapino S, Borsetti F, Zannoni D. Borghese R, et al. Bioelectrochemistry. 2020 Jun;133:107456. doi: 10.1016/j.bioelechem.2020.107456. Epub 2020 Jan 8. Bioelectrochemistry. 2020. PMID: 32007911

8

Premature Infants have Lower Gastric Digestion Capacity for Human Milk Proteins than Term Infants.

Demers-Mathieu V, Qu Y, Underwood MA, Borghese R, Dallas DC. Demers-Mathieu V, et al. Among authors: borghese r. J Pediatr Gastroenterol Nutr. 2018 May;66(5):816-821. doi: 10.1097/MPG.0000000000001835. J Pediatr Gastroenterol Nutr. 2018. PMID: 29135822 Free PMC article.

9

Changes in Proteases, Antiproteases, and Bioactive Proteins From Mother's Breast Milk to the Premature Infant Stomach.

Demers-Mathieu V, Nielsen SD, Underwood MA, Borghese R, Dallas DC. Demers-Mathieu V, et al. Among authors: borghese r. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):318-324. doi: 10.1097/MPG.0000000000001719. J Pediatr Gastroenterol Nutr. 2018. PMID: 28906320 Free PMC article.

10

Analysis of Milk from Mothers Who Delivered Prematurely Reveals Few Changes in Proteases and Protease Inhibitors across Gestational Age at Birth and Infant Postnatal Age.

Demers-Mathieu V, Nielsen SD, Underwood MA, Borghese R, Dallas DC. Demers-Mathieu V, et al. Among authors: borghese r. J Nutr. 2017 Jun;147(6):1152-1159. doi: 10.3945/jn.116.244798. Epub 2017 Apr 19. J Nutr. 2017. PMID: 28424255 Free PMC article.

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