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Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Fauré, Véronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich

Journal of medical genetics 2022;60(1):13-24

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The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Emily K Mis, Samir Al-Ali, Weizhen Ji, Michele Spencer-Manzon, Monica Konstantino, Mustafa K Khokha, Lauren Jeffries, Saquib A Lakhani

American journal of medical genetics. Part A 2021;182(10):2291-2296

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Monogenic Forms of Hypertension.

Filippo Ceccato, Franco Mantero

Endocrinology and metabolism clinics of North America 2020;48(4):795-810

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The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.

Nami Altin, Kamel Mamchaoui, Jessica Ohana, Anne Bigot, Beatrice Corradi, Luca Maragliano, Francesca Madia, Marzia Ognibene, Mohammad Sadegh Shams Nosrati, Dario Paladini, Michele Iacomino, Asma Rashid, Olaf Bodamer, Susana Quijano-Roy, Jaya Punetha, Valeria Capra, Federico Zara, Capucine Trollet, Marcello Scala

Human mutation 2025;2025():1785045

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Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Charles R Lefèvre, Sophie Collardeau-Frachon, Nathalie Streichenberger, Sophie Berenguer-Martin, Alix Clémenson, Jérôme Massardier, Fabienne Prieur, Hélène Laurichesse, Fanny Laffargue, Cécile Acquaviva-Bourdain, Roseline Froissart, Magali Pettazzoni

Journal of inherited metabolic disease 2024;47(2):255-269

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Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Livia Garavelli, Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga

Genes 2022;13(1):

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Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Irene Valenzuela, Paula Fernández-Alvarez, Francina Munell, Angel Sanchez-Montanez, Gemma Giralt, Teresa Vendrell, Eduardo F Tizzano

European journal of medical genetics 2017;60(6):303-307

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Novel mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.

Johann Böhm, Edoardo Malfatti, Emily Oates, Kristi Jones, Guy Brochier, Anne Boland, Jean-François Deleuze, Norma Beatriz Romero, Jocelyn Laporte

Journal of medical genetics 2020;56(9):617-621

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The Molecular Genetics of Gordon Syndrome.

Holly Mabillard, John A Sayer

Genes 2020;10(12):986

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Results: 1 – 15 / 17

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Results for ""Arthrogryposis""[mesh_terms]

Classification of arthrogryposis.

Arthrogryposis and fetal hypomobility syndrome.

Amyoplasia and distal arthrogryposis.

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.

Separation in genetic pathogenesis of mutations in FBN1-TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome.

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Monogenic Forms of Hypertension.

The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Novel mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.

The Molecular Genetics of Gordon Syndrome.

Results for
""Arthrogryposis""[mesh_terms]