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1
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
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Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Vanessa Luiza Romanelli Tavares Christopher T Gordon; Roseli Maria Zechi-Ceide; Nancy Mizue Kokitsu Nakata; Norine Voisin; Tiong Y Tan; Andrew A Heggie; Siulan Vendramini Paulovich Pittoli; Evan J Propst; Blake C Papsin; Tatiana Teixeira Torres; Henk Buermans; Luciane Portas Capelo; Johan T Den Dunnen; Maria Leine Guion-Almeida; Stanislas Lyonnet; Jeanne Amiel; Maria Rita Passos-Bueno

European Journal of Human Genetics London v. 23, n. 4, p. 481-485, Apr. 2015

London 2015

Item não circula. Consulte sua biblioteca.(Acessar)

2
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
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Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Christopher T Gordon K. Nicole Weaver; Roseli Maria Zechi-Ceide; Erik C Madsen; Andre L. P Tavares; Myriam Oufadem; Yukiko Kurihara; Igor Adameyko; Arnaud Picard; Sylvain Breton; Sébastien Pierrot; Martin Biosse-Duplan; Norine Voisin; Cécile Masson; Christine Bole-Feysot; Patrick Nitschké; Marie-Ange Delrue; Didier Lacombe; Maria Leine Guion-Almeida; Priscila Padilha Moura; Daniela Gamba Garib; Arnold Munnich; Patrik Ernfors; Robert B Hufnagel; Robert J Hopkin

American Journal of Human Genetics Chicago v. 96, n. 4, p. 519-531, Apr. 2015

Chicago 2015

Acesso online

3
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Bassani, Sissy ; Chrast, Jacqueline ; Ambrosini, Giovanna ; Voisin, Norine ; Schütz, Frédéric ; Brusco, Alfredo ; Sirchia, Fabio ; Turban, Lydia ; Schubert, Susanna ; Abou Jamra, Rami ; Schlump, Jan-Ulrich ; DeMille, Desiree ; Bayrak-Toydemir, Pinar ; Nelson, Gary Rex ; Wong, Kristen Nicole ; Duncan, Laura ; Mosera, Mackenzie ; Gilissen, Christian ; Vissers, Lisenka E L M ; Pfundt, Rolph ; Kersseboom, Rogier ; Yttervik, Hilde ; Hansen, Geir Åsmund Myge ; Smeland, Marie Falkenberg ; Butler, Kameryn M ; Lyons, Michael J ; Carvalho, Claudia M B ; Zhang, Chaofan ; Lupski, James R ; Potocki, Lorraine ; Flores-Gallegos, Leticia ; Morales-Toquero, Rodrigo ; Petit, Florence ; Yalcin, Binnaz ; Tuttle, Annabelle ; Elloumi, Houda Zghal ; McCormick, Lane ; Kukolich, Mary ; Klaas, Oliver ; Horvath, Judit ; Scala, Marcello ; Iacomino, Michele ; Operto, Francesca ; Zara, Federico ; Writzl, Karin ; Maver, Aleš ; Haanpää, Maria K ; Pohjola, Pia ; Arikka, Harri ; Kievit, Anneke J A ; Calandrini, Camilla ; Iseli, Christian ; Guex, Nicolas ; Reymond, Alexandre

Genome medicine, 2024-05, Vol.16 (1), p.72-18, Article 72 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants
Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants
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Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants

Mattioli, Francesca ; Voisin, Norine ; Preikšaitienė, Eglė ; Kozlovskaja, Irina ; Kučinskas, Vaidutis ; Reymond, Alexandre

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1275-1281 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signaling
Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signaling
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Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signaling

Rydeen, Ariel ; Voisin, Norine ; D'Aniello, Enrico ; Ravisankar, Padmapriyadarshini ; Devignes, Claire-Sophie ; Waxman, Joshua S.

Developmental biology, 2015-09, Vol.405 (1), p.47-55 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Bassani, Sissy ; van Beelen, Edward ; Rossel, Mireille ; Voisin, Norine ; Morgan, Anna ; Arribat, Yoan ; Chatron, Nicolas ; Chrast, Jacqueline ; Cocca, Massimiliano ; Delprat, Benjamin ; Faletra, Flavio ; Giannuzzi, Giuliana ; Guex, Nicolas ; Machavoine, Roxane ; Pradervand, Sylvain ; Smits, Jeroen J ; van de Kamp, Jiddeke M ; Ziegler, Alban ; Amati, Francesca ; Marlin, Sandrine ; Kremer, Hannie ; Locher, Heiko ; Maurice, Tangui ; Gasparini, Paolo ; Girotto, Giorgia ; Reymond, Alexandre

Human molecular genetics, 2021-09, Vol.30 (19), p.1785-1796 [Periódico revisado por pares]

England: Oxford University Press

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7
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Sadler, Brooke ; Wilborn, Jackson ; Antunes, Lilian ; Kuensting, Timothy ; Hale, Andrew T. ; Gannon, Stephen R. ; McCall, Kevin ; Cruchaga, Carlos ; Harms, Matthew ; Voisin, Norine ; Reymond, Alexandre ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Tartaglia, Marco ; Niceta, Marcello ; Leoni, Chiara ; Zampino, Giuseppe ; Ashley-Koch, Allison ; Urbizu, Aintzane ; Garrett, Melanie E. ; Soldano, Karen ; Macaya, Alfons ; Conrad, Donald ; Strahle, Jennifer ; Dobbs, Matthew B. ; Turner, Tychele N. ; Shannon, Chevis N. ; Brockmeyer, Douglas ; Limbrick, David D. ; Gurnett, Christina A. ; Haller, Gabe

American journal of human genetics, 2021-01, Vol.108 (1), p.100-114 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Tripathy, Ratna ; Leca, Ines ; van Dijk, Tessa ; Weiss, Janneke ; van Bon, Bregje W. ; Sergaki, Maria Christina ; Gstrein, Thomas ; Breuss, Martin ; Tian, Guoling ; Bahi-Buisson, Nadia ; Paciorkowski, Alexander R. ; Pagnamenta, Alistair T. ; Wenninger-Weinzierl, Andrea ; Martinez-Reza, Maria Fernanda ; Landler, Lukas ; Lise, Stefano ; Taylor, Jenny C. ; Terrone, Gaetano ; Vitiello, Giuseppina ; Del Giudice, Ennio ; Brunetti-Pierri, Nicola ; D’Amico, Alessandra ; Reymond, Alexandre ; Voisin, Norine ; Bernstein, Jonathan A. ; Farrelly, Ellyn ; Kini, Usha ; Leonard, Thomas A. ; Valence, Stéphanie ; Burglen, Lydie ; Armstrong, Linlea ; Hiatt, Susan M. ; Cooper, Gregory M. ; Aldinger, Kimberly A. ; Dobyns, William B. ; Mirzaa, Ghayda ; Pierson, Tyler Mark ; Baas, Frank ; Chelly, Jamel ; Cowan, Nicholas J. ; Keays, David Anthony

Neuron (Cambridge, Mass.), 2018-12, Vol.100 (6), p.1354-1368.e5 [Periódico revisado por pares]

United States: Elsevier Inc

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9
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Gueneau, Lucie ; Fish, Richard J. ; Shamseldin, Hanan E. ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R. ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam ; Jamuar, Saumya Shekhar ; Ying, Lim J. ; Bonnard, Carine ; Pippucci, Tommaso ; Pradervand, Sylvain ; Roechert, Bernd ; van Hasselt, Peter M. ; Wiederkehr, Michaël ; Wright, Caroline F. ; Xenarios, Ioannis ; van Haaften, Gijs ; Shaw-Smith, Charles ; Schindewolf, Erica M. ; Neerman-Arbez, Marguerite ; Sanlaville, Damien ; Lesca, Gaëtan ; Guibaud, Laurent ; Reversade, Bruno ; Chelly, Jamel ; Kučinskas, Vaidutis ; Alkuraya, Fowzan S. ; Reymond, Alexandre

American journal of human genetics, 2018-01, Vol.102 (1), p.116-132 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
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Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families

Preiksaitiene, Egle ; Voisin, Norine ; Gueneau, Lucie ; Benušienė, Eglė ; Krasovskaja, Natalija ; Blažytė, Evelina Marija ; Ambrozaitytė, Laima ; Rančelis, Tautvydas ; Reymond, Alexandre ; Kučinskas, Vaidutis

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.536-542 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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Deste Autor:

  1. Voisin, N
  2. Zechi-Ceide, R
  3. Guion-Almeida, M
  4. Gordon, C
  5. Masson, C

Neste Assunto:

  1. Life Sciences & Biomedicine
  2. Science & Technology
  3. Genetics & Heredity
  4. Humans
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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