Search Results - "Sinico, M"

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment by Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivre, L, Munnich, A, Boddaert, N, Maldergem, L Van, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Escudier, E, Attié-Bitach, T

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Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome by Steffann, J, Gigarel, N, Corcos, J, Bonnière, M, Encha-Razavi, F, Sinico, M, Prevot, S, Dumez, Y, Yamgnane, A, Frydman, R, Munnich, A, Bonnefont, J P

“…Background: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk…”
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Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images by Sinico, M., Levaillant, J. M., Vergnaud, A., Blondeau, J. R., Encha-Razavi, F., Mornet, E., Le Merrer, M., Gerard-Blanluet, M.

“…Background Hypophosphatasia is an osseous dysplasia with highly variable clinical expression, ranging from a recessive lethal prenatal type to late onset…”
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P03.38: Prenatal forehead edema in 4p‐ deletion, the “Greek warrior helmet” profile revisited by Levaillant, J. M., Gérard‐Blanluet, M., Sinico, M.

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Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited by Levaillant, J. M., Touboul, C., Sinico, M., Vergnaud, A., Serero, S., Druart, L., Blondeau, J. R., Abd Alsamad, I., Haddad, B., Gérard-Blanluet, M.

“…Objectives Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. Methods A prenatal suspicion of 4p‐ syndrome was…”
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Classical West “syndrome” phenotype with a subtelomeric 4p trisomy by Gérard‐Blanluet, Marion, Romana, S., Munier, C., Le Lorc'h, M., Kanafani, S., Sinico, M., Touboul, C., Levaillant, J.M., Haddad, B., Lopez, N., Lelong, F., de Villemeur, T. Billette, Verloes, A., Borghi, E.

“…We report a girl with mild mental retardation with onset of infantile spasms at age of 9 months. Treatment with a short course of adrenocorticotropic hormone…”
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De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation by Delahaye, A, Pipiras, E, Kanafani, S, Touboul, C, Vergnaud, A, Encha-Razavi, F, Sinico, M, Benkhalifa, M, Kasakyan, S, Serero, S, Wolf, J P, Gérard-Blanluet, M, Benzacken, B

“…We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities,…”
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Recognition of Bactericidal/Permeability-Increasing Protein by Perinuclear Anti-Neutrophil Cytoplasmic Antibody-Positive Sera from Ulcerative Colitis Patients: Prevalence and Clinical Significance by VECCHI, M, SINICO, A, BIANCHI, M. B, RADICE, A, GIONCHETTI, P, CAMPIERI, M, DE FRANCHIS, R

“…Background: The aim of this study was to evaluate a) the role of bactericidal/permeability-increasing protein (BPI) as a possible antigen determining…”
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Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease by Denamur, Erick, Delezoide, Anne-Lise, Alberti, Corinne, Bourillon, Agnès, Gubler, Marie-Claire, Bouvier, Raymonde, Pascaud, Olivier, Elion, Jacques, Grandchamp, Bernard, Michel-Calemard, Laurence, Missy, Pascale, Zaccaria, Isabelle, Le Nagard, Hervé, Gerard, Bénédicte, Loirat, Chantal

“…The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene…”
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Presence of papilloma virus type 11 in condyloma acuminatum of bladder in female renal transplant recipient by Benoit, G, Orth, G, Vieillefond, A, Sinico, M, Charpentier, B, Jardin, A, Fries, D

“…A case is reported of a female renal transplant recipient in whom, after two years of immunosuppression, condylomata acuminata of the genital tract with…”
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Stability of the m.8993T arrow right G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome by Steffann, J, Gigarel, N, Corcos, J, Bonniere, M, Encha-Razavi, F, Sinico, M, Prevot, S, Dumez, Y, Yamgnane, A, Frydman, R, Munnich, A, Bonnefont, J P

“…BACKGROUND: Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk…”
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Chorioamniotite à  Candida glabrata après fécondation in vitro by Carbonnel, M., Kayem, G., Luquet-Besson, I., Sinico, M., Abirached, F., Haddad, B.

“…Nous rapportons l'observation d'une patiente qui a développé sur une grossesse gémellaire obtenue par fécondation in vitro une chorioamniotite compliquée d'une…”
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Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes by Hertz-Pannier, Lucie, Déchaux, Michele, Sinico, Martine, Emond, Sophie, Cormier-Daire, Valerie, Saudubray, Jean-Marie, Brunelle, Francis, Niaudet, Patrick, Seta, Nathalie, de Lonlay, Pascale

“…There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders…”
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Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males by Gérard-Blanluet, Marion, Sheen, Volney, Machinis, Kalotina, Neal, Jason, Apse, Kira, Danan, Claude, Sinico, Martine, Brugières, Pierre, Mage, Katia, Ratsimbazafy, Lanto, Elbez, Annie, Janaud, Jean-Claude, Amselem, Serge, Walsh, Christopher, Encha-Razavi, Férechté

“…We report on the case of dizygotic twin boys, born prematurely to an asymptomatic mother. Bilateral periventricular heterotopias with enlarged ventricles were…”
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Anionic liposomes for small interfering ribonucleic acid （siRNA） delivery to primary neuronal cells： Evaluation of alpha-synuclein knockdown efficacy by Michele Schlich Francesca Longhena Gaia Faustini Caitriona M. O＇Driscoll Chiara Sinico Anna Maria Fadda Arianna Bellucci Francesco Lai

“…Alpha-synuclein （a-syn） deposition in Lewy bodies （LB） is one of the main neuropathological hallmarks of Parkinson＇s disease （PD）. LB accumulation is…”
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Perinatal Risk Factors for Bronchopulmonary Dysplasia in Extremely Low Gestational Age Infants: A Pregnancy Disorder–Based Approach by Durrmeyer, Xavier, MD, Kayem, Gilles, MD, PhD, Sinico, Martine, MD, Dassieu, Gilles, MD, Danan, Claude, MD, Decobert, Fabrice, MD

“…Objective To analyze risk factors for bronchopulmonary dysplasia (BPD) or death according to the condition leading to extremely preterm birth, preterm labor,…”
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Candida glabrata chorioamnionitis following in vitro fertilization by Carbonnel, M, Kayem, G, Luquet-Besson, I, Sinico, M, Abirached, F, Haddad, B

“…We report one case of severe Candida glabrata chorioamnionitis and septicemy occurring in a twin pregnancies achieved by in vitro fertilization techniques…”
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Churg–Strauss angiitis by Sinico, Renato A., MD, Bottero, Paolo, MD

“…Churg–Strauss angiitis or syndrome (CSA) is defined as an eosinophil-rich and granulomatous inflammation involving the respiratory tract, and necrotising…”
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Hepatoblastoma and hepatocarcinoma in children: analysis of a series of 29 cases by Gauthier, F, Valayer, J, Thai, B L, Sinico, M, Kalifa, C

“…Twenty-nine cases of liver malignancies, 26 hepatoblastomas (HB) and 3 hepatocarcinomas (HC), were treated in a 13-year period. All children were submitted to…”
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Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody–associated vasculitis by Alberici, Federico, MD, Smith, Rona M., MD, Fonseca, Mariana, PhD, Willcocks, Lisa C., PhD, Jones, Rachel B., MD, Holle, Julia U., PhD, Wieczorek, Stefan, MD, Neumann, Thomas, PhD, Martorana, Davide, PhD, Gregorini, Gina, MD, Sinico, Renato A., MD, Bruchfeld, Annette, PhD, Gunnarsson, Iva, PhD, Ohlsson, Sophie, PhD, Baslund, Bo, PhD, Tesar, Vladimir, PhD, Hruskova, Zdenka, PhD, Cid, Maria C., PhD, Vaglio, Augusto, PhD, Lyons, Paul A., PhD, Smith, Kenneth G.C., PhD, Jayne, David R.W., MD

“…To the Editor: Rituximab is effective at inducing and maintaining remission in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV).1,2 The…”
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