Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

87 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: rondeau s. Am J Hum Genet. 2024 Dec 24:S0002-9297(24)00418-X. doi: 10.1016/j.ajhg.2024.11.009. Online ahead of print. Am J Hum Genet. 2024. PMID: 39721588
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko KA, Abe-Hatano C, Nakagawa E, Venselaar H, Quercia N, Chad L, Kurosaka H, Rondeau S, Fisher SE, Yamamoto S, Zarate YA. den Hoed J, et al. Among authors: rondeau s. J Med Genet. 2024 Oct 23;61(11):1062-1067. doi: 10.1136/jmg-2024-110015. J Med Genet. 2024. PMID: 39327041
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C. Thomas H, et al. Among authors: rondeau s. J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. J Med Genet. 2024. PMID: 38937076
87 results