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Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
Published in:
Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-6
By:
- Reibel, Amélie;
- Manière, Marie-Cécile;
- Clauss, François;
- Droz, Dominique;
- Alembik, Yves;
- Mornet, Etienne;
- Bloch-Zupan, Agnès
Publication type:
Article
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
By:
- Ruault, Valentin;
- Burger, Pauline;
- Gradels‐Hauguel, Johanna;
- Ruiz, Nathalie;
- Jamra, Rami Abou;
- Afenjar, Alexandra;
- Alembik, Yves;
- Alessandri, Jean‐Luc;
- Arpin, Stéphanie;
- Barcia, Giulia;
- Bendová, Šárka;
- Bruel, Ange‐Line;
- Charles, Perrine;
- Chatron, Nicolas;
- Chopra, Maya;
- Conrad, Solène;
- Daire, Valérie Cormier;
- Cospain, Auriane;
- Coubes, Christine;
- Coursimault, Juliette
Publication type:
Article
Co‐occurring anomalies in congenital oral clefts.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1700, doi. 10.1002/ajmg.a.62689
By:
- Stoll, Claude;
- Alembik, Yves;
- Roth, Marie‐Paule
Publication type:
Article
Co‐occurring non‐omphalocele and non‐gastroschisis anomalies among cases with congenital omphalocele and gastroschisis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1954, doi. 10.1002/ajmg.a.62112
By:
- Stoll, Claude;
- Alembik, Yves;
- Roth, Marie‐Paule
Publication type:
Article
Associated anomalies in cases with anorectal anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2646, doi. 10.1002/ajmg.a.40530
By:
- Stoll, Claude;
- Dott, Beatrice;
- Alembik, Yves;
- Roth, Marie‐Paule
Publication type:
Article
Associated anomalies in cases with esophageal atresia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2139, doi. 10.1002/ajmg.a.38303
By:
- Stoll, Claude;
- Alembik, Yves;
- Dott, Beatrice;
- Roth, Marie‐Paule
Publication type:
Article
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856
By:
- Chatron, Nicolas;
- Haddad, Véronique;
- Andrieux, Joris;
- Désir, Julie;
- Boute, Odile;
- Dieux, Anne;
- Baumann, Clarisse;
- Drunat, Séverine;
- Gérard, Marion;
- Bonnet, Céline;
- Leheup, Bruno;
- Till, Marianne;
- Rossi, Massimiliano;
- Flori, Elisabeth;
- Alembik, Yves;
- Stewart, Helen;
- McParland, Joanna;
- Bernardini, Laura;
- Castelluccio, Pia;
- Roos, Laura
Publication type:
Article
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Published in:
PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006957
By:
- Blanchet, Patricia;
- Bebin, Martina;
- Bruet, Shaam;
- Cooper, Gregory M.;
- Thompson, Michelle L.;
- Duban-Bedu, Benedicte;
- Gerard, Benedicte;
- Piton, Amelie;
- Suckno, Sylvie;
- Deshpande, Charu;
- Clowes, Virginia;
- Vogt, Julie;
- Turnpenny, Peter;
- Williamson, Michael P.;
- Alembik, Yves;
- null, null;
- Glasgow, Eric;
- McNeill, Alisdair
Publication type:
Article
Evaluation of prenatal diagnosis by a registry of congenital anomalies.
Published in:
Prenatal Diagnosis, 1992, v. 12, n. 4, p. 263, doi. 10.1002/pd.1970120405
By:
- Stoll, Claude;
- Alembik, Yves;
- Dott, Béatrice;
- Roth, Marie-Paule;
- Finck, Sonja
Publication type:
Article
Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center.
Published in:
2019
By:
- Guffroy, Aurélien;
- Dieudonné, Yannick;
- Uring-Lambert, Beatrice;
- Goetz, Joelle;
- Alembik, Yves;
- Korganow, Anne-Sophie
Publication type:
Letter
Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue.
Published in:
Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.00840
By:
- Dieudonné, Yannick;
- Uring-Lambert, Beatrice;
- Jeljeli, Mohamed Maxime;
- Gies, Vincent;
- Alembik, Yves;
- Korganow, Anne-Sophie;
- Guffroy, Aurélien
Publication type:
Article
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00504
By:
- Laugel-Haushalter, Virginie;
- Bär, Séverine;
- Schaefer, Elise;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Alembik, Yves;
- Kharouf, Naji;
- Huckert, Mathilde;
- Hamm, Pauline;
- Hemmerlé, Joseph;
- Manière, Marie-Cécile;
- Friant, Sylvie;
- Dollfus, Hélène;
- Bloch-Zupan, Agnès
Publication type:
Article
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 11, p. 3038, doi. 10.1093/hmg/ddv053
By:
- Huckert, Mathilde;
- Stoetzel, Corinne;
- Supawich Morkmued;
- Laugel-Haushalter, Virginie;
- Geoffroy, Véronique;
- Muller, Jean;
- Clauss, François;
- Prasad, Megana K.;
- Obry, Frédéric;
- Raymond, Jean Louis;
- Switala, Marzena;
- Alembik, Yves;
- Soskin, Sylvie;
- Mathieu, Eric;
- Hemmerlé, Joseph;
- Weickert, Jean-Luc;
- Dabovic, Branka Brukner;
- Rifkin, Daniel B.;
- Dheedene, Annelies;
- Boudin, Eveline
Publication type:
Article
Associated malformations among infants with neural tube defects.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 565, doi. 10.1002/ajmg.a.33886
By:
- Stoll, Claude;
- Dott, Beatrice;
- Alembik, Yves;
- Roth, Marie-Paule
Publication type:
Article
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
By:
- Boussion, Simon;
- Escande, Fabienne;
- Jourdain, Anne‐Sophie;
- Smol, Thomas;
- Brunelle, Perrine;
- Duhamel, Céline;
- Alembik, Yves;
- Attié‐Bitach, Tania;
- Baujat, Geneviève;
- Bazin, Anne;
- Bonnière, Maryse;
- Carassou, Philippe;
- Carles, Dominique;
- Devisme, Louise;
- Goizet, Cyril;
- Goldenberg, Alice;
- Grotto, Sarah;
- Guichet, Agnès;
- Jouk, Pierre‐Simon;
- Loeuillet, Laurence
Publication type:
Article
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
Published in:
Human Mutation, 2004, v. 23, n. 4, p. 300, doi. 10.1002/humu.20018
By:
- Ranta, Susanna;
- Topcu, Meral;
- Tegelberg, Saara;
- Tan, Hüseyin;
- Üstübütün, Alp;
- Saatci, Isil;
- Dufke, Andreas;
- Enders, Herbert;
- Pohl, Keith;
- Alembik, Yves;
- Mitchell, Wayne A.;
- Mole, Sara E.;
- Lehesjoki, Anna-Elina
Publication type:
Article
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Published in:
Open Medicine, 2020, v. 15, n. 1, p. 435, doi. 10.1515/med-2020-0150
By:
- Marey, Isabelle;
- Fressart, Véronique;
- Rambaud, Caroline;
- Fornes, Paul;
- Martin, Laurent;
- Grotto, Sarah;
- Alembik, Yves;
- Gorka, Hervé;
- Millat, Gilles;
- Gandjbakhch, Estelle;
- Bordet, Céline;
- Lorin de la Grandmaison, Geoffroy;
- Richard, Pascale;
- Charron, Philippe
Publication type:
Article
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Published in:
Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 112, doi. 10.1111/j.1529-8027.2012.00382.x
By:
- Yger, Marion;
- Stojkovic, Tanya;
- Tardieu, Sandrine;
- Maisonobe, Thierry;
- Brice, Alexis;
- Echaniz-Laguna, Andoni;
- Alembik, Yves;
- Girard, Samantha;
- Cazeneuve, Cécile;
- LeGuern, Eric;
- Dubourg, Odile
Publication type:
Article
Birth prevalence rates of skeletal dysplasias.
Published in:
Clinical Genetics, 1989, v. 35, n. 2, p. 88, doi. 10.1111/j.1399-0004.1989.tb02912.x
By:
- Stoll, Claude;
- Dott, Beatrice;
- Roth, Marie-Paule;
- Alembik, Yves
Publication type:
Article

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