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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

120 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Latorre-Pellicer A, et al. Among authors: kuechler a. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. Sci Rep. 2021. PMID: 34326454 Free PMC article.
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. Gangfuß A, et al. Among authors: kuechler a. Am J Med Genet A. 2021 Apr;185(4):1216-1221. doi: 10.1002/ajmg.a.62070. Epub 2021 Jan 11. Am J Med Genet A. 2021. PMID: 33427397
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: kuechler a. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P. Tenorio-Castaño J, et al. Among authors: kuechler a. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. Genes (Basel). 2021. PMID: 34068396 Free PMC article.
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller K, Yigit G, Martínez Grijalva C, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A. Khuller K, et al. Among authors: kuechler a. Eur J Med Genet. 2021 Oct;64(10):104310. doi: 10.1016/j.ejmg.2021.104310. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400370
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A. Gangfuß A, et al. Among authors: kuechler a. J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18. J Pathol. 2022. PMID: 34599609
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: kuechler a. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: kuechler a. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
Novel Variants of SOX4 in Patients with Intellectual Disability.
Grosse M, Kuechler A, Dabir T, Spranger S, Beck-Wödl S, Bertrand M, Haack TB, Grasemann C, Manka E, Depienne C, Kaiser FJ. Grosse M, et al. Among authors: kuechler a. Int J Mol Sci. 2023 Feb 9;24(4):3519. doi: 10.3390/ijms24043519. Int J Mol Sci. 2023. PMID: 36834931 Free PMC article.
120 results