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1 . Academic Journal
Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
저자
by
Kuleva, M
;
Ben Miled, S
;
Steffann, J
;
Bonnefont, JP
;
Rondeau, S
, et al.
소스
BJOG: An International Journal of Obstetrics & Gynaecology
. Oct2019, Vol. 126 Issue 11, p1372-1379. 8p. 1 Diagram, 3 Charts.
Web of Science
Scopus
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7 . Academic Journal
Preimplantation diagnosis for mitochondrial DNA disorders: contribution to understanding mitochondrial DNA segregation during early human embryonic development
저자
by
Steffann, J
;
Gigarel, N
;
Burlet, P
;
Kerbrat, V
;
Tachdjian, G
, et al.
소스
In
Reproductive BioMedicine Online
2008 16 Supplement 3:s30-s30
Full Text (ScienceDirect)
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Web of Science
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7 . Academic Journal
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
저자
by
Thauvin-Robinet, Christel
;
Munck, Anne
;
Huet, Frédéric
;
de Becdelièvre, Alix
;
Jimenez, Clément
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2013 50(4):220-227
Full Text (BMJ Journals)
Web of Science
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7 .
Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
저자
by
Alessandra Pescatore
;
Mariateresa Paciolla
;
Christine Bodemer
;
Asma Smahi
;
Angela E. Scheuerle
, et al.
소스
Human Mutation
. 35:165-177
Web of Science
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7 . Academic Journal
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis
저자
by
Steffann, J
;
Frydman, N
;
Gigarel, N
;
Burlet, P
;
Ray, PF
, et al.
소스
JOURNAL OF MEDICAL GENETICS
; MAR 2006, 43 3, p244-p247, 4p.
Full Text (BMJ Journals)
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7 . Academic Journal
Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN
저자
by
Olaso, R
;
Joshi, V
;
Fernandez, J
;
Roblot, N
;
Courageot, S
, et al.
소스
PHYSIOLOGICAL GENOMICS
; JAN 12 2006, 24 2, p97-p104, 8p.
Scopus
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7 . Academic Journal
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy
저자
by
Burlet, P
;
Frydman, N
;
Gigarel, N
;
Bonnefont, JP
;
Kerbrat, V
, et al.
소스
FERTILITY AND STERILITY
; SEP 2005, 84 3, p734-p739, 6p.
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7 . Academic Journal
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children
저자
by
Scherer, SW
;
Gripp, KW
;
Lucena, J
;
Nicholson, L
;
Bonnefont, JP
, et al.
소스
HUMAN GENETICS
; AUG 2005, 117 4, p383-p388, 6p.
Full Text (Springer)
Scopus
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7 . Academic Journal
Single cell quantification of the 8993T > G NARP mitochondrial DNA mutation by fluorescent PCR
저자
by
Gigarel, N
;
Ray, PF
;
Burlet, P
;
Frydman, N
;
Royer, G
, et al.
소스
MOLECULAR GENETICS AND METABOLISM
; MAR 2005, 84 3, p289-p292, 4p.
Full Text (ScienceDirect)
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7 . Academic Journal
Molecular diagnostics of mitochondrial disorders
저자
by
Rotig, A
;
Lebon, S
;
Zinovieva, E
;
Mollet, J
;
Sarzi, E
, et al.
소스
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
; DEC 6 2004, 1659 2-3, p129-p135, 7p.
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