121 related articles for article (PubMed ID: 35940561)
1. New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.
Silva RG; Dupont J; Silva E; Sousa AB
J AAPOS; 2022 Oct; 26(5):268-270. PubMed ID: 35940561
[TBL] [Abstract][Full Text] [Related]
2. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
Lee CG; Seol CA; Ki CS
Am J Med Genet A; 2020 Nov; 182(11):2788-2792. PubMed ID: 32902151
[TBL] [Abstract][Full Text] [Related]
3. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Jansen S; van der Werf IM; Innes AM; Afenjar A; Agrawal PB; Anderson IJ; Atwal PS; van Binsbergen E; van den Boogaard MJ; Castiglia L; Coban-Akdemir ZH; van Dijck A; Doummar D; van Eerde AM; van Essen AJ; van Gassen KL; Guillen Sacoto MJ; van Haelst MM; Iossifov I; Jackson JL; Judd E; Kaiwar C; Keren B; Klee EW; Klein Wassink-Ruiter JS; Meuwissen ME; Monaghan KG; de Munnik SA; Nava C; Ockeloen CW; Pettinato R; Racher H; Rinne T; Romano C; Sanders VR; Schnur RE; Smeets EJ; Stegmann APA; Stray-Pedersen A; Sweetser DA; Terhal PA; Tveten K; VanNoy GE; de Vries PF; Waxler JL; Willing M; Pfundt R; Veltman JA; Kooy RF; Vissers LELM; de Vries BBA
Eur J Hum Genet; 2019 May; 27(5):738-746. PubMed ID: 30679813
[TBL] [Abstract][Full Text] [Related]
4. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Fritzen D; Kuechler A; Grimmel M; Becker J; Peters S; Sturm M; Hundertmark H; Schmidt A; Kreiß M; Strom TM; Wieczorek D; Haack TB; Beck-Wödl S; Cremer K; Engels H
Hum Genet; 2018 May; 137(5):401-411. PubMed ID: 29796876
[TBL] [Abstract][Full Text] [Related]
5. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E; Cogné B; Dallapiccola B; Distelmaier F; Elmslie F; Faivre L; Haack TB; Harrison V; Henderson A; Hunt D; Isidor B; Joset P; Kumada S; Lachmeijer AMA; Lees M; Lynch SA; Martinez F; Matsumoto N; McDougall C; Mefford HC; Miyake N; Myers CT; Moutton S; Nesbitt A; Novelli A; Orellana C; Rauch A; Rosello M; Saida K; Santani AB; Sarkar A; Scheffer IE; Shinawi M; Steindl K; Symonds JD; Zackai EH; ; ; Reis A; Sticht H; Zweier C
Am J Hum Genet; 2018 Aug; 103(2):305-316. PubMed ID: 30057029
[TBL] [Abstract][Full Text] [Related]
6. How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Mégarbané A; Mehawej C; Mahfoud D; Chouery E; Devriendt K; Hijazi M; Ryu SW; Kim J; McNeill A
Eur J Med Genet; 2024 Jun; 69():104944. PubMed ID: 38679370
[TBL] [Abstract][Full Text] [Related]
7. De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A; Meerbrei T; Gerstner T; Toutain A; Lynch SA; Stals K; Maxton C; Lemke JR; Bernat JA; Bombei HM; Foulds N; Hunt D; Kuechler A; Beygo J; Stöbe P; Bouman A; Palomares-Bralo M; Santos-Simarro F; Garcia-Minaur S; Pacio-Miguez M; Popp B; Vasileiou G; Hebebrand M; Reis A; Schuhmann S; Krumbiegel M; Brown NJ; Sparber P; Melikyan L; Bessonova L; Cherevatova T; Sharkov A; Shcherbakova N; Dabir T; Kini U; Schwaibold EMC; Haack TB; Bertoli M; Hoffjan S; Falb R; Shinawi M; Sticht H; Zweier C
Hum Mol Genet; 2022 Feb; 31(3):440-454. PubMed ID: 34505148
[TBL] [Abstract][Full Text] [Related]
8. FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.
Pan X; Liu L; Zhang X; Tang X; Qian G; Qiu H; Lin S; Yao H; Dong X; Tan B
J Hum Genet; 2024 May; ():. PubMed ID: 38740982
[TBL] [Abstract][Full Text] [Related]
9. Novel
Kaiwar C; Zimmermann MT; Ferber MJ; Niu Z; Urrutia RA; Klee EW; Babovic-Vuksanovic D
Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28963436
[TBL] [Abstract][Full Text] [Related]
10. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
11. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
[TBL] [Abstract][Full Text] [Related]
12. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
13. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
[TBL] [Abstract][Full Text] [Related]
14. Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.
Demeulenaere S; Beysen D; De Veuster I; Reyniers E; Kooy F; Meuwissen M
Eur J Med Genet; 2019 Aug; 62(8):103691. PubMed ID: 31176769
[TBL] [Abstract][Full Text] [Related]
15. From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC; Bruno I; Barbi E; Sirchia F
Ital J Pediatr; 2022 May; 48(1):72. PubMed ID: 35550183
[TBL] [Abstract][Full Text] [Related]
16. Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
Shankar SP; Fallurin R; Watson T; Shankar PR; Young TL; Orel-Bixler D; Rauen KA
Ophthalmic Genet; 2022 Feb; 43(1):48-57. PubMed ID: 34612139
[TBL] [Abstract][Full Text] [Related]
17. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M; Paracha SA; Serretti A; Sarwar MT; Khan J; Ranza E; Falconnet E; Iwaszkiewicz J; Shah SF; Qaisar AA; Santoni FA; Zoete V; Megarbane A; Ahmed J; Colombo R; Makrythanasis P; Antonarakis SE
Hum Mol Genet; 2019 Mar; 28(6):972-979. PubMed ID: 30481285
[TBL] [Abstract][Full Text] [Related]
18. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
Ariss M; Natan K; Friedman N; Traboulsi EI
Ophthalmic Genet; 2012 Sep; 33(3):159-60. PubMed ID: 22486326
[TBL] [Abstract][Full Text] [Related]
19. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.
Quental R; Gonçalves D; Rodrigues E; Serrano Gonçalves E; Oliveira J; Parente Freixo J; Leão M
Am J Med Genet A; 2022 Apr; 188(4):1311-1316. PubMed ID: 34997803
[TBL] [Abstract][Full Text] [Related]
20. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Leduc MS; Mcguire M; Madan-Khetarpal S; Ortiz D; Hayflick S; Keller K; Eng CM; Yang Y; Bi W
Hum Genet; 2018 Mar; 137(3):257-264. PubMed ID: 29556724
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
