Search Results - "Bensignor, C"

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis by Bruel, A.‐L., Masurel‐Paulet, A., Rivière, J.‐B., Duffourd, Y., Lehalle, D., Bensignor, C., Huet, F., Borgnon, J., Roucher, F., Kuentz, P., Deleuze, J.‐F., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.

“…Description of a boy from consanguineous family, with scrotal agenesis and Dandy‐Walker malformation. We report on a boy with a rare malformative association…”
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Additional Tunisian patients with Sanjad–Sakati syndrome: A review toward a consensus on diagnostic criteria by Touati, A., Nouri, S., Halleb, Y., Kmiha, S., Mathlouthi, J., Tej, A., Mahdhaoui, N., Ben Ahmed, A., Saad, A., Bensignor, C., H’mida Ben Brahim, D.

“…Sanjad–Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by…”
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The pituitary stalk interruption syndrome: Endocrine features and benefits of growth hormone therapy by El Chehadeh, S, Bensignor, C, de Monléon, J.-V, Méjean, N, Huet, F

“…Résumé Introduction L’insuffisance antehypophysaire de l’enfant est d’origine multifactorielle (malformative, génétique, traumatique, tumorale…). Une entité…”
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Final height of early treated growth hormone deficient patients: a therapeutic model by Bensignor, C, De Monléon, J-V, Polak M, M, Carel, J-C, Huet, F

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Taille finale des déficits somatotropes traités précocement : un modèle thérapeutique by Bensignor, C., De Monléon, J.-V., Polak M, M., Carel, J.-C., Huet, F.

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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature by El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence

“…Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly,…”
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Young XLH Patients-Reported Experience with a Supportive Care Program by Rothenbuhler, Anya, Gueorguieva, Iva, Lichtenberger-Geslin, Lydia, Audrain, Christelle, Soskin, Sylvie, Bensignor, Candace, Rossignol, Sylvie, Bertholet-Thomas, Aurélia, Naudeau, Lorelei, Bacchetta, Justine, Linglart, Agnès

“…X-linked hypophosphatemia (XLH) is a rare, chronic, genetic condition characterized by renal phosphate wasting and abnormal bone and teeth mineralization. It…”
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Nævus éruptifs agminés des plis associés à une histiocytose langerhansienne by Surinach, C.-C., Bahadoran, P., Vabres, P., Chiaverini, C., Montaudié, H., Erfan, N., Deville, A., Bensignor, C., Benchetrit, M., Passeron, T., Lacour, J.-P.

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