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Robert Saura

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Physiology

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Anatomy

Chromosomes, Human, Pair 16

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Newborn Infant

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Jérôme Toutain; Jacques Horovitz; Robert Saura
Comment on "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome".
Jérôme Toutain; David Cappellen; Dominique Carles; Edith Chevret; Jacky Ferrer; Jacques Horovitz; Yamina Idrissi; Ana Jarne; Didier Lacombe; Brigitte Maugey-Laulon; Jean-Philippe Merlio; fanny Pelluard; Martina Prochazkova-Carlotti; Robert Saura
Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.
Phi Yen Vu; Azza Abd El Moneim; Jérôme Toutain; Cong Toai Tran; Benoît Arveiler; Pascal Barat; Françoise Bonnet; Sylvain Briault; David Cappellen; Zong Qi Dai; Hussein Daoud; Marie-Ange Delrue; Didier Lacombe; Orianne Montaubin; Christophe Philippe; Caroline Rooryck; Robert Saura; Laurence Taine
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

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All Publications

2013: Jérôme Toutain; Jacques Horovitz; Robert Saura
Comment on "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome".
Prenatal diagnosis 2013;33(3):301-2.
2013: Jérôme Toutain; David Cappellen; Dominique Carles; Edith Chevret; Jacky Ferrer; Jacques Horovitz; Yamina Idrissi; Ana Jarne; Didier Lacombe; Brigitte Maugey-Laulon; Jean-Philippe Merlio; fanny Pelluard; Martina Prochazkova-Carlotti; Robert Saura
Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.
PloS one 2013;8(1):e54013.
2012: Phi Yen Vu; Azza Abd El Moneim; Jérôme Toutain; Cong Toai Tran; Benoît Arveiler; Pascal Barat; Françoise Bonnet; Sylvain Briault; David Cappellen; Zong Qi Dai; Hussein Daoud; Marie-Ange Delrue; Didier Lacombe; Orianne Montaubin; Christophe Philippe; Caroline Rooryck; Robert Saura; Laurence Taine
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
American journal of medical genetics. Part A 2012;158A(11):2849-56.
2012: Jérôme Toutain; Gwendoline Soler; Laurence Taine; Marianne Begorre; Jacques Horovitz; Marie-Anne Lemaire-Coustel; Orianne Montaubin; Robert Saura
Proportion of parents agreeing to delay fetal karyotyping until the third trimester of pregnancy in cases with an indication.
Fetal diagnosis and therapy 2012;31(2):115-21.
2011: Robert Saura; J Toutain; Jacques Horovitz
[Reflections on the "feasibility of chorionic villus sampling outside referral prenatal diagnosis centers"].
Journal de gynécologie, obstétrique et biologie de la reproduction 2011;40(5):481-2.
2011: C Labeau-Gaüzere; Jacques Horovitz; Jean-Luc Brun; Robert Saura; J Toutain
[Confined placental mosaicisms a priori from meiotic origin: analysis of 10 cases].
Gynécologie, obstétrique & fertilité 2011;39(2):117-20.
2010: Caroline Rooryck; Yen VuPhi; Noui Souakri; Ingrid Burgelin; Robert Saura; Didier Lacombe; Benoît Arveiler; Laurence Taine
Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
European journal of medical genetics 2010;53(2):104-7.
2009: Dominique Carles; fanny Pelluard; Gwenaelle André; Sophie Naudion; Robert Saura
[Maze-like vascular anomaly in partial mole. Interest for the pathological diagnosis of partial mole on chorionic villous sampling].
Annales de pathologie 2009;29(5):424-7.
2009: Dominique Carles; fanny Pelluard; Raphalle Mangione; Alain Liquier; Jacques Horovitz; Robert Saura
[Advantages and limitations of chorionic villous sampling].
Bulletin de l'Académie nationale de médecine 2009;193(3):675-89; discussion 689-90.
2008: F Vandenbossche; Jacques Horovitz; Frédéric Guyon; C Verret; Robert Saura
Pain experience during chorionic villus sampling and amniocentesis: a preliminary study.
European journal of obstetrics, gynecology, and reproductive biology 2008;136(2):189-93.
2006: C Rota; Dominique Carles; V Schaeffer; Frédéric Guyon; Robert Saura; Jacques Horovitz
[Perinatal prognosis of pregnancies complicated by placental chronic intervillitis].
Journal de gynécologie, obstétrique et biologie de la reproduction 2006;35(7):711-9.
2006: Marie-Pierre Reboul; O Tandonnet; Nicolas Biteau; C Belet-de Putter; Laurent Rebouissoux; Kamran Moradkhani; P Y Vu; Robert Saura; Benoît Arveiler; Didier Lacombe; Laurence Taine; Albert Iron
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.
Clinical genetics 2006;70(3):207-13.
2005: Fanny Pelluard-Nehmé; Dominique Carles; Eve Marie Alberti; Robert Saura; Christian Wong; Claude Wolf
[Smith-Lemli-Opitz syndrome].
Annales de pathologie 2005;25(4):318-21.
2005: Nicolas Chassaing; Virginie Siani; Dominique Carles; Anne-Lise Delezoide; Eve Marie Alberti; Jacques Battin; Jean-François Chateil; Brigitte Gilbert-Dussardier; Isabelle Coupry; Benoît Arveiler; Robert Saura; Didier Lacombe
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
American journal of medical genetics. Part A 2005;136A(4):307-12.
2005: F Minier; Dominique Carles; fanny Pelluard; Eve Marie Alberti; L Stern; Robert Saura
[DiGeorge syndrome, a review of 52 patients].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(3):254-7.
2005: Dominique Carles; fanny Pelluard; Eve Marie Alberti; Brigitte Maugey-Laulom; T Y Lin; Robert Saura; D Roux; Didier Lacombe
Fetal presentation of PHACES syndrome.
American journal of medical genetics. Part A 2005;132A(1):110.
2004: Jean-Luc Brun; Flore Gangbo; Zon Qi Wen; Katia Galant; Laurence Taine; Brigitte Maugey-Laulom; Denis Roux; Raphaelle Mangione; Jacques Horovitz; Robert Saura
Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases.
Prenatal diagnosis 2004;24(3):213-8.
2004: E Gangbo; Didier Lacombe; Eve Marie Alberti; Laurence Taine; Robert Saura; Dominique Carles
Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.
Genetic counseling (Geneva, Switzerland) 2004;15(3):311-5.
2004: Frédéric Guyon; B Marnet; Sandrine Arnaud-Dabernat; Dominique Carles; C Mathieu; Robert Saura; Yves Perel; Jacques Horovitz; Marc Landry; P Bischof; Jean-Yves Daniel
Differential expression of the nm23 genes in the developing human trophoblast.
Placenta 2004;25(1):20-8.
2003: Raphaelle Mangione; Didier Lacombe; Dominique Carles; Frédéric Guyon; Robert Saura; Jacques Horovitz
Craniofacial dysmorphology and three-dimensional ultrasound: a prospective study on practicability for prenatal diagnosis.
Prenatal diagnosis 2003;23(10):810-8.
2003: Nicolas Chassaing; Didier Lacombe; Dominique Carles; Patrick Calvas; Robert Saura; Eric Bieth
Donnai-Barrow syndrome: four additional patients.
American journal of medical genetics. Part A 2003;121A(3):258-62.
2003: Laurence Taine; Philippe Rocca-Serra; Azza Abd El Moneim; Nathalie Verdier; Kamran Moradkhani; Robert Saura; Philippe Gorry; Michel Longy; Françoise Bonnet
The common fragile site FRA16C does not map within the 16q smallest region of overlap number 2 frequently lost in breast carcinoma.
Cancer genetics and cytogenetics 2003;144(1):85-6.
2003: Jean-Luc Brun; Raphaelle Mangione; Flore Gangbo; Frédéric Guyon; Laurence Taine; Denis Roux; Brigitte Maugey-Laulom; Jacques Horovitz; Robert Saura
Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases.
Prenatal diagnosis 2003;23(4):295-301.
2001: Raphaelle Mangione; Frédéric Guyon; Laurence Taine; Zon Qi Wen; D Roux; A Vergnaud; Brigitte Maugey-Laulom; Jacques Horovitz; Robert Saura
Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency.
Fetal diagnosis and therapy 2001;16(6):360-3.
1999: Raphaelle Mangione; Frédéric Guyon; A Vergnaud; M Jimenez; Robert Saura; Jacques Horovitz
Successful treatment of refractory supraventricular tachycardia by repeat intravascular injection of amiodarone in a fetus with hydrops.
European journal of obstetrics, gynecology, and reproductive biology 1999;86(1):105-7.
1998: Robert Saura; Denis Roux; B Maugey-Laulon; Laurence Taine; Zon Qi Wen; A Vergnaud; Jacques Horovitz
False-negative results of trisomy 21 on direct analysis on chorionic villus sampling.
Prenatal diagnosis 1998;18(8):866-7.
1998: Laurence Taine; Cyril Goizet; Zon Qi Wen; F Petrij; M H Breuning; S Aymé; Robert Saura; Benoît Arveiler; Didier Lacombe
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
American journal of medical genetics 1998;78(3):267-70.
1998: Robert Saura; Laurence Taine; Frédéric Guyon; Raphaelle Mangione; Jacques Horovitz
Safety and fetal outcome of early and midtrimester amniocentesis.
Lancet 1998;351(9113):1434-5.
1998: Laurence Taine; Isabelle Coupry; P Boisseau; Robert Saura; Didier Lacombe; Benoît Arveiler
Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.
Human genetics 1998;102(2):178-81.
1997: Cyril Goizet; Laurence Taine; Zon Qi Wen; Jacques Horovitz; Didier Lacombe; Robert Saura
[Does germinal chromosomal mosaicism exist?].
Journal de gynécologie, obstétrique et biologie de la reproduction 1997;26(3 Suppl):133-5.
1997: Laurence Taine; Cyril Goizet; Zon Qi Wen; Jean-François Chateil; Jacques Battin; Robert Saura; Didier Lacombe
18p monosomy with midline defects and a de novo satellite identified by FISH.
Annales de génétique 1997;40(3):158-63.
1995: Robert Saura; W Traore; Laurence Taine; Zon Qi Wen; D Roux; B Maugey-Laulom; M Ruffie; A Vergnaud; Jacques Horovitz
Prenatal diagnosis of trisomy 9. Six cases and a review of the literature.
Prenatal diagnosis 1995;15(7):609-14.
1995: J L Brun; B Maugey-Laulom; C Billeaud; D Roux; Dominique Dallay; Robert Saura
[Prenatal diagnosis of a hydrothorax secondary to an extralobar pulmonary sequestration].
Journal de gynécologie, obstétrique et biologie de la reproduction 1995;24(6):610-2.
1995: J L Brun; Laurence Taine; Jacques Horovitz; B Maugey-Laulom; Dominique Carles; Robert Saura
[Prenatal diagnosis of nuchal edemas and cystic hygromas of the neck. 49 cases].
Journal de gynécologie, obstétrique et biologie de la reproduction 1995;24(2):162-9.
1994: Robert Saura; D Roux; Laurence Taine; B Maugey; D Laulon; J P Laplace; Jacques Horovitz
Early amniocentesis versus chorionic villus sampling for fetal karyotyping.
Lancet 1994;344(8925):825-6.
1994: Robert Saura; Laurence Taine; Zon Qi Wen; W Traore; Jacques Horovitz
Amniotic fluid leakage and miscarriages after TA-CVS.
Prenatal diagnosis 1994;14(9):897.
1994: J L Brun; Robert Saura; Jacques Horovitz; B Maugey; Laurence Taine; D Roux; A Vergnaud
First trimester diagnosis of fetal nuchal edema. Report of 29 cases.
Fetal diagnosis and therapy 1994;9(4):246-51.
1994: Robert Saura; B Gauthier; Laurence Taine; Zon Qi Wen; Jacques Horovitz; D Roux; B Laulom; A Vergnaud
Operator experience and fetal loss rate in transabdominal CVS.
Prenatal diagnosis 1994;14(1):70-1.
1994: Robert Saura; J L Brun; Laurence Taine; Jacques Horovitz; B Maugey; D Roux
Is non-echogenic nuchal oedema a marker in trisomy 21 screening?
Prenatal diagnosis 1994;14(1):69-70.
1994: A L Alfonso-Fischbach; C Guegan; Robert Saura; B Maugey-Laulom; B Sandler; Jacques Horovitz
[Prenatal diagnosis and treatment of fetal hypothyroid goiter].
Journal de gynécologie, obstétrique et biologie de la reproduction 1994;23(8):888-91.
1993: Robert Saura; Laurence Taine; Jacques Horovitz; G Verdier; Zon Qi Wen; D Roux; B Maugey; A Vergnaud
Why confine chorionic villus biopsy to single pregnancies?
Prenatal diagnosis 1993;13(10):1009-10.
1993: M Longy; Robert Saura; F Dumas; J F Leseve; Laurence Taine; J F Goussot; Patrice Couzigou
Chromosome analysis of adenomatous polyps of the colon: possible existence of two differently evolving cytogenetic groups.
Cancer genetics and cytogenetics 1993;67(1):7-13.
1993: F Serville; D Lacombe; Robert Saura; C Billeaud; M P Sergent
Townes-Brocks syndrome in an infant with translocation t (5;16).
Genetic counseling (Geneva, Switzerland) 1993;4(2):109-12.
1992: Robert Saura; Jacques Horovitz; Laurence Taine; D Roux; C Hocke; B Maugey; A Vergnaud
A modified freehand ultrasonographically guided technique in transabdominal chorionic villus sampling.
American journal of obstetrics and gynecology 1992;167(5):1483-4.
1992: Didier Lacombe; Robert Saura; Laurence Taine; J Battin
Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.
American journal of medical genetics 1992;44(1):126-8.
1992: Robert Saura; O Grison; Laurence Taine; J P Coadic; F Febrer; M Longy
A simple method of chromosomal analysis for malignant solid tumors.
Cancer genetics and cytogenetics 1992;60(1):105-7.
1992: Jacques Horovitz; Robert Saura; I Spalova
[Chorionic villi sampling and prenatal diagnosis].
Revue française de gynécologie et d'obstétrique 1992;87(4):183-7.
1991: Robert Saura; Jacques Horovitz; O Grison; M Longy; B Maugey; J F Lesesve; A Vergnaud; D Roux
[Evaluation of the risks of transabdominal chorionic villus sampling. 600 cases].
Journal de gynécologie, obstétrique et biologie de la reproduction 1991;20(4):496-500.
1990: Robert Saura; O Grison; Jacques Horovitz; M Longy; B Maugey; A Vergnaud
Timing of transabdominal chorionic villus sampling.
Lancet 1990;336(8727):1385.
1990: M Longy; Robert Saura; L Schouler; C Mauhin; J F Goussot; O Grison; Patrice Couzigou
Chromosomal analysis of colonic adenomatous polyps.
Cancer genetics and cytogenetics 1990;49(2):249-57.
1990: Robert Saura; M Longy; Jacques Horovitz; O Grison; A Vergnaud; Laurence Taine; B Maugey
Risks of transabdominal chorionic villus sampling before the 12th week of amenorrhea.
Prenatal diagnosis 1990;10(7):461-7.
1990: Robert Saura; M Longy; O Grison; Jacques Horovitz; A Vergnaud
Feasibility of placental biopsy in the second trimester for fetal diagnosis.
American journal of obstetrics and gynecology 1990;162(5):1362-3.
1989: Robert Saura; M Longy; Jacques Horovitz; A Vergnaud; O Grison
Direct chromosome analysis in the second and third trimesters by placental biopsy in 30 pregnancies.
British journal of obstetrics and gynaecology 1989;96(10):1215-8.
1989: M Longy; Robert Saura; C Mauhin; Patrice Couzigou
A simple method of chromosomal analysis for colonic adenomatous polyps.
Cancer genetics and cytogenetics 1989;37(2):285-7.
1989: Robert Saura; M Longy; Jacques Horovitz; E Singlan; A Vergnaud; O Grison
A study comparing transcervical with trans-abdominal chorionic villi sampling (CVS)
British journal of obstetrics and gynaecology 1989;96(1):123-4.
1988: Robert Saura; M Longy; Jacques Horovitz; O Grison; A Vergnaud; J R Nelson
Feto-placental discrepancy on direct chromosomal preparation from chorionic villus sampling of the second trimester.
Clinical genetics 1988;34(5):342-3.
1988: Robert Saura; M Longy; J Horowitz; A Vergnaud
[Improvement of a chromosomal technic for trophoblast biopsy. Apropos of 200 cases].
Journal de génétique humaine 1988;36(1-2):115-22.
1988: Robert Saura; M Longy; A Vergnaud; J J Leng
[Placentocentesis, a new technic in the prenatal diagnosis of chromosome aberrations in the 3d trimester. A preliminary study apropos of 5 cases].
Journal de gynécologie, obstétrique et biologie de la reproduction 1988;17(3):343-5.
1988: Jacques Horovitz; C Trebesses; Robert Saura; F Serville; M Longy; H Brahim
[Basal decidual hematoma persisting after biopsy of the trophoblast].
Journal de gynécologie, obstétrique et biologie de la reproduction 1988;17(7):906-8.
1987: Robert Saura; M Longy; F Serville; O Chokairi; M F Froute
Abnormal phenotype in a child with a "balanced" translocation 8/12 in mosaic state.
American journal of medical genetics 1987;28(4):1021-3.
1987: F Serville; Robert Saura; C Billeaud; S Girard; A Choiset; M Longy; B Sandler
De novo inv del(4) in an infant with the Wolf-Hirschhorn syndrome.
Annales de génétique 1987;30(3):170-4.
1986: Robert Saura; Jacques Horovitz; J Meunier; J Dubecq
[A new technic for early prenatal diagnosis: trophoblast biopsy. Preliminary study].
Revue française de gynécologie et d'obstétrique 1986;81(2):87-9.
1984: S Gilgenkrantz; Alain MORALI; M Vidailhet; Robert Saura; F Serville; D Fontan; C Moraine
[The r(14) syndrome. 3 new observations].
Annales de génétique 1984;27(2):73-8.
1983: Robert Saura; M Longy; M Sautarael; M Renouil; B Sandler
[Double trisomy and transmitted pericentric inversion (48,XXY, +21,inv(22)). Interchromosomal effect].
Annales de génétique 1983;26(3):180-2.
1982: Robert Saura; M Longy; F Serville; M Sautarel; M Renouil; B Sandler
[Partial trisomy of the proximal part of the long arm of chromosome 13].
Pédiatrie 1982;37(6):473-7.