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Author/Creator Munnich, Arnold

1. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium. Issue 1 (13th November 2013)

Authors:
Thomas, Sophie; Wright, Kevin J.; Corre, Stéphanie Le; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean‐Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, S...
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
137
Record Type:
Journal Article
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2. A new lethal syndrome of exomphalos, short limbs, and macrogonadism. Issue 2 (1st February 1999)

Authors:
Faivre, Laurence; Delezoide, Anne-Lise; Narcy, Françoise; Razavi, Féréchté; Bouvier, Raymonde; Cormier-Daire, Valérie; Briard, Marie-Louise; Lyonnet, Stanislas; Vekemans, Michel; Munnich, Arnold; Le Merrer, Martine
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 2(1999)
Page Start:
131
Record Type:
Journal Article
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3. A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases. Issue 5 (23rd March 2023)

Authors:
Chatzovoulou, Kalliopi; Mayeur, Anne; Cagnard, Nicolas; Zarhrate, Mohammed; Bole, Christine; Nitschke, Patrick; Jabot-Hanin, Fabienne; Rötig, Agnès; Monnot, Sophie; Munnich, Arnold; Frydman, Nelly; Steffann, Julie
Journal:
Human reproduction
Issue:
Volume 38:Issue 5(2023)
Page Start:
992
Record Type:
Journal Article
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4. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. Issue 2 (21st November 2013)

Authors:
Livingston, John H; Lin, Jean-Pierre; Dale, Russell C; Gill, Deepak; Brogan, Paul; Munnich, Arnold; Kurian, Manju A; Gonzalez-Martinez, Victoria; De Goede, Christian G E L; Falconer, Alastair; Forte, Gabriella; Jenkinson, Emma M; Kasher, Paul R; Szynkiewicz, Marcin; Rice, Gillian I; Crow, Yanick J
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 2(2014)
Page Start:
76
Record Type:
Journal Article
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5. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. Issue 12 (7th October 2016)

Authors:
Lerat, Justine; Jonard, Laurence; Loundon, Natalie; Christin‐Maitre, Sophie; Lacombe, Didier; Goizet, Cyril; Rouzier, Cécile; Van Maldergem, Lionel; Gherbi, Souad; Garabedian, Eréa‐Nöel; Bonnefont, Jean‐ Paul; Touraine, Philippe; Mosnier, Isabelle; Munnich, Arnold; Denoyelle, Françoise; Marlin, S...
Journal:
Human mutation
Issue:
Volume 37:Issue 12(2016)
Page Start:
1354
Record Type:
Journal Article
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6. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Issue 2 (20th January 2013)

Authors:
Baujat, Geneviève; Huber, Céline; El Hokayem, Joyce; Caumes, Roseline; Do Ngoc Thanh, Claire; David, Albert; Delezoide, Anne-Lise; Dieux-Coeslier, Anne; Estournet, Brigitte; Francannet, Christine; Kayirangwa, Honorine; Lacaille, Florence; Le Bourgeois, Muriel; Martinovic, Jelena; Salomon, Rémi; S...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 2(2013)
Page Start:
91
Record Type:
Journal Article
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7. Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre. (17th February 2019)

Authors:
Kuleva, Marina; Ben Miled, Selima; Steffann, Julie; Rondeau, Sophie; Ville, Yves; Munnich, Arnold; Salomon, Laurent J
Journal:
BJOG
Issue:
Volume 126:Number 11(2019)
Page Start:
1401
Record Type:
Journal Article
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8. B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?. Issue 7 (1st July 2001)

Authors:
Edery, Patrick; Le Deist, Françoise; Briard, Marie-Louise; Debré, Marianne; Munnich, Arnold; Griscelli, Claude; Fischer, Alain; Lyonnet, Stanislas
Journal:
Journal of medical genetics
Issue:
Volume 38:Issue 7(2001)
Page Start:
488
Record Type:
Journal Article
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9. Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders. (28th January 2021)

Authors:
Loiselet, Klervie; Ruzzenente, Benedetta; Roux, Charles‐Joris; Barcia, Giulia; Pennisi, Alessandra; Desguerre, Isabelle; Rötig, Agnès; Munnich, Arnold; Boddaert, Nathalie
Other Names:
Levy Raphaël investigator.; Dangouloff‐Ros Volodia investigator.; Grévent David investigator.; De Lonlay Pascale investigator.
Journal:
Developmental medicine & child neurology
Issue:
Volume 63:Number 6(2021)
Page Start:
705
Record Type:
Journal Article
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10. Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome. Issue 7 (26th March 2014)

Authors:
Gordon, Christopher T.; Cunniff, Christopher M.; Green, Glenn E.; Zechi‐Ceide, Roseli Maria; Johnson, Jason M.; Henderson, Alex; Petit, Florence; Kokitsu‐Nakata, Nancy Mizue; Guion‐Almeida, Maria Leine; Munnich, Arnold; Cunningham, Michael L.; Lyonnet, Stanislas; Amiel, Jeanne
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1850
Record Type:
Journal Article
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