Publications by authors named "Daniel Amram"

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Daniel Amram

Am J Med Genet A· April 2024

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Effects of cannabis smoking on the respiratory system: A state-of-the-art review.
Lugain Khoj, Vincenzo Zagà, Daniel L Amram, Karishma Hosein, Giovanni Pistone

Respir Med· January 2024

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Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier, Olivia Anselem, Emmanuelle Pannier, Daniel Amram

Brain· May 2023

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Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Maya Chopra, Richard Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Daniel Amram

Eur J Hum Genet· August 2022

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Daniel Amram

J Med Genet· June 2022

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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Daniel Amram

Genet Med· August 2021

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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Daniel Amram

Genet Med· August 2021

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Considerations on the article De Bernardis, E., & Busà, L. (2020). A putative role for the tobacco mosaic virus in smokers' resistance to COVID-19 Medical Hypotheses, 110153.
Vincenzo Zagà, Daniel L Amram, Giacomo Mangiaracina, Maria Sofia Cattaruzza

Med Hypotheses· November 2020

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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Daniel Amram

Eur J Hum Genet· June 2020

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram

Brain· June 2018

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Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram

Hum Mutat· March 2018

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram

Brain· March 2018

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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Daniel Amram

Genet Med· September 2017

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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Alexandra Gauthier-Vasserot, Christel Thauvin-Robinet, Ange-Line Bruel, Yannis Duffourd, Judith St-Onge, Daniel Amram

Am J Med Genet A· January 2017

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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Daniel Amram

Hum Mutat· December 2016

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New insights into genotype-phenotype correlation for GLI3 mutations.
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Daniel Amram

Eur J Hum Genet· January 2015

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Variants in CUL4B are associated with cerebral malformations.
Anneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A Haas, Hao Hu, Daniel Amram

Hum Mutat· January 2015

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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Daniel Amram

Am J Hum Genet· September 2013

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Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
Martine Sinico, Guillaume Bassez, Claudine Touboul, Helene Cavé, Armand Vergnaud, Daniel Amram

Pediatr Dev Pathol· October 2011

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Möbius syndrome in a neonate after mifepristone and misoprostol elective abortion failure.
Marie-Andrée Bos-Thompson, Dominique Hillaire-Buys, Clarisse Roux, Jean-Luc Faillie, Daniel Amram

Ann Pharmacother· June 2008

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Early maturation of evoked otoacoustic emissions and medial olivocochlear reflex in preterm neonates.
René Chabert, Matthieu J Guitton, Daniel Amram, Alain Uziel, Rémy Pujol

Pediatr Res· February 2006

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