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Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report.
Published in:
Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 218, doi. 10.2350/09-06-0664-CR.1
By:
- SINICO, MARTINE;
- BASSEZ, GUILLAUME;
- TOUBOUL, CLAUDINE;
- CAV, HELENE;
- VERGNAUD, ARMAND;
- ZIRAH, CLÉMENT;
- FLEURY-FEITH, JOCELYNE;
- GETTLER, SYLVAIN;
- VOJTEK, ANNE MARIE;
- CHEVALIER, NICOLE;
- AMRAM, DANIEL;
- ALSAMAD, ISSAM ABD;
- HADDAD, BASSAM;
- ENCHA-RAZAVI, FERECHT
Publication type:
Article
Prevalence of depressive symptoms in a large series of smokers intending to quit. Effective implications for clinics in the field of internal medicine.
Published in:
Pneumologia, 2017, v. 66, n. 2, p. 78
By:
- Lugoboni, Fabio;
- Residori, Margherita;
- Zamboni, Lorenzo;
- Casari, Rebecca;
- Faccini, Marco;
- Amram, Daniel L.;
- Zagà, Vincenzo
Publication type:
Article
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
By:
- Boutaud, Lucile;
- Ruzzenente, Benedetta;
- Tessier, Aude;
- Anselem, Olivia;
- Pannier, Emmanuelle;
- Grotto, Sarah;
- Talhi, Naïma;
- Amram, Daniel;
- Willems, Marjolaine;
- Wells, Constance;
- Blanchet, Patricia;
- Musizzano, Yuri;
- Jauny, Clémence;
- Nitschke, Patrick;
- Bole-Feysot, Christine;
- Bessières, Bettina;
- Salhi, Houria;
- Achaiaa, Amale;
- Metodiev, Metodi D;
- Razavi, Ferechte
Publication type:
Article
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Published in:
2018
By:
- Piard, Juliette;
- Umanah, George K. Essien;
- Harms, Frederike L.;
- Abalde-Atristain, Leire;
- Amram, Daniel;
- Chang, Melissa;
- Rong Chen;
- Alawi, Malik;
- Salpietro, Vincenzo;
- Rees, Mark I.;
- Seo-Kyung Chung;
- Houlden, Henry;
- Verloes, Alain;
- Dawson, Ted M.;
- Dawson, Valina L.;
- Van Maldergem, Lionel;
- Kutsche, Kerstin;
- Essien Umanah, George K;
- Chen, Rong;
- Chung, Seo-Kyung
Publication type:
Letter
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Published in:
2018
By:
- Piard, Juliette;
- Umanah, George K. Essien;
- Harms, Frederike L.;
- Abalde-Atristain, Leire;
- Amram, Daniel;
- Chang, Melissa;
- Rong Chen;
- Alawi, Malik;
- Salpietro, Vincenzo;
- Rees, Mark I.;
- Seo-Kyung Chung;
- Houlden, Henry;
- Verloes, Alain;
- Dawson, Ted M.;
- Dawson, Valina L.;
- Van Maldergem, Lionel;
- Kutsche, Kerstin;
- Chen, Rong;
- Chung, Seo-Kyung
Publication type:
journal article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
By:
- Gauthier‐Vasserot, Alexandra;
- Thauvin‐Robinet, Christel;
- Bruel, Ange‐Line;
- Duffourd, Yannis;
- St‐Onge, Judith;
- Jouan, Thibaud;
- Rivière, Jean‐Baptiste;
- Heron, Delphine;
- Donadieu, Jean;
- Bellanné‐Chantelot, Christine;
- Briandet, Claire;
- Huet, Frédéric;
- Kuentz, Paul;
- Lehalle, Daphné;
- Duplomb‐Jego, Laurence;
- Gautier, Elodie;
- Maystadt, Isabelle;
- Pinson, Lucile;
- Amram, Daniel;
- El Chehadeh, Salima
Publication type:
Article
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway.
Published in:
Ultrasound in Obstetrics & Gynecology, 2022, v. 59, n. 4, p. 532, doi. 10.1002/uog.23715
By:
- Bourgon, N.;
- Carmignac, V.;
- Sorlin, A.;
- Duffourd, Y.;
- Philippe, C.;
- Thauvin‐Robinet, C.;
- Guibaud, L.;
- Faivre, L.;
- Vabres, P.;
- Kuentz, P.;
- Tisserand, Emilie;
- Chevarin, Martin;
- Delanne, Julian;
- Jouan, Thibaud;
- Pöe, Charlotte;
- Abel, Carine;
- Allory, Patrick;
- Amram, Daniel;
- Attie‐Bitach, Tania;
- Aziza, Jacqueline
Publication type:
Article
Danni respiratori da cannabis (parte I). Epidemiologia e tossicologia della cannabis.
Published in:
Rassegna di Patologia dell'Apparato Respiratorio, 2024, v. 39, n. 1, p. 28, doi. 10.36166/2531-4920-670
By:
- Zagà, Vincenzo;
- Amram, Daniel L.;
- Serafini, Antonella;
- Pistone, Giovanni;
- Cammarata, Liborio M.;
- Bisconti, Mario;
- Gorini, Giuseppe;
- Cattaruzza, Maria Sofia
Publication type:
Article
Ossigenoterapia e fumo di tabacco: rischio incendi e prevenzione.
Published in:
Rassegna di Patologia dell'Apparato Respiratorio, 2022, v. 37, n. 2, p. 95, doi. 10.36166/2531-4920-589
By:
- Serafini, Antonella;
- Cardellicchio, Salvatore;
- Zagà, Vincenzo;
- Amram, Daniel L.;
- Martucci, Paola
Publication type:
Article
Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
By:
- Létard, Pascaline;
- Drunat, Séverine;
- Vial, Yoann;
- Duerinckx, Sarah;
- Ernault, Anais;
- Amram, Daniel;
- Arpin, Stéphanie;
- Bertoli, Marta;
- Busa, Tiffany;
- Ceulemans, Berten;
- Desir, Julie;
- Doco‐Fenzy, Martine;
- Elalaoui, Siham Chafai;
- Devriendt, Koenraad;
- Faivre, Laurence;
- Francannet, Christine;
- Geneviève, David;
- Gérard, Marion;
- Gitiaux, Cyril;
- Julia, Sophie
Publication type:
Article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1329, doi. 10.1002/humu.23038
By:
- Dubourg, Christèle;
- Carré, Wilfrid;
- Hamdi‐Rozé, Houda;
- Mouden, Charlotte;
- Roume, Joëlle;
- Abdelmajid, Benmansour;
- Amram, Daniel;
- Baumann, Clarisse;
- Chassaing, Nicolas;
- Coubes, Christine;
- Faivre‐Olivier, Laurence;
- Ginglinger, Emmanuelle;
- Gonzales, Marie;
- Levy‐Mozziconacci, Annie;
- Lynch, Sally‐Ann;
- Naudion, Sophie;
- Pasquier, Laurent;
- Poidvin, Amélie;
- Prieur, Fabienne;
- Sarda, Pierre
Publication type:
Article

Found: 11