250 related articles for article (PubMed ID: 29899504)
1. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
Trinh J; Hüning I; Yüksel Z; Baalmann N; Imhoff S; Klein C; Rolfs A; Gillessen-Kaesbach G; Lohmann K
J Hum Genet; 2018 Sep; 63(9):997-1001. PubMed ID: 29899504
[TBL] [Abstract][Full Text] [Related]
2. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J; Goudie D; Blair E; Chandler K; Joss S; McKay V; Green A; Armstrong R; Lees M; Kamien B; Hopper B; Tan TY; Yap P; Stark Z; Okamoto N; Miyake N; Matsumoto N; Macnamara E; Murphy JL; McCormick E; Hakonarson H; Falk MJ; Li D; Blackburn P; Klee E; Babovic-Vuksanovic D; Schelley S; Hudgins L; Kant S; Isidor B; Cogne B; Bradbury K; Williams M; Patel C; Heussler H; Duff-Farrier C; Lakeman P; Scurr I; Kini U; Elting M; Reijnders M; Schuurs-Hoeijmakers J; Wafik M; Blomhoff A; Ruivenkamp CAL; Nibbeling E; Dingemans AJM; Douine ED; Nelson SF; ; Hempel M; Bierhals T; Lessel D; Johannsen J; Arboleda VA; Newbury-Ecob R
Genet Med; 2019 Apr; 21(4):850-860. PubMed ID: 30245513
[TBL] [Abstract][Full Text] [Related]
3. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA; Lee H; Dorrani N; Zadeh N; Willis M; Macmurdo CF; Manning MA; Kwan A; Hudgins L; Barthelemy F; Miceli MC; Quintero-Rivera F; Kantarci S; Strom SP; Deignan JL; ; Grody WW; Vilain E; Nelson SF
Am J Hum Genet; 2015 Mar; 96(3):498-506. PubMed ID: 25728775
[TBL] [Abstract][Full Text] [Related]
4. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham E; Lindstrand A; Santani A; Malmgren H; Nesbitt A; Dubbs HA; Zackai EH; Parker MJ; Millan F; Rosenbaum K; Wilson GN; Nordgren A
Am J Hum Genet; 2015 Mar; 96(3):507-13. PubMed ID: 25728777
[TBL] [Abstract][Full Text] [Related]
5. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S
Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203
[TBL] [Abstract][Full Text] [Related]
6. Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
Wang Q; Zhang Y; Li L; Yang N
Mol Genet Genomic Med; 2024 May; 12(5):e2420. PubMed ID: 38773911
[TBL] [Abstract][Full Text] [Related]
7. Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1.
Wang D; Lai P
Eur J Med Genet; 2020 Dec; 63(12):104082. PubMed ID: 33059074
[TBL] [Abstract][Full Text] [Related]
8. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Wayhelova M; Oppelt J; Smetana J; Hladilkova E; Filkova H; Makaturova E; Nikolova P; Beharka R; Gaillyova R; Kuglik P
Mol Med Rep; 2019 Jul; 20(1):505-512. PubMed ID: 31180560
[TBL] [Abstract][Full Text] [Related]
9. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
10. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag N; Tan EC; Begemann M; Buschmann L; Kraft F; Holschbach P; Lai AHM; Brett M; Mochida GH; DiTroia S; Pais L; Neil JE; Al-Saffar M; Bastaki L; Walsh CA; Kurth I; Knopp C
Eur J Hum Genet; 2021 Nov; 29(11):1663-1668. PubMed ID: 34413497
[TBL] [Abstract][Full Text] [Related]
11. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M
Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
[TBL] [Abstract][Full Text] [Related]
12. Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Troisi S; Maitz S; Severino M; Spano A; Cappuccio G; Brunetti-Pierri N; Torella A; Nigro V; Tudp ; Bilo L; Coppola A
Eur J Med Genet; 2022 Jan; 65(1):104380. PubMed ID: 34748993
[TBL] [Abstract][Full Text] [Related]
13. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
El-Bazzal L; Atkinson A; Gillart AC; Obeid M; Delague V; Mégarbané A
Eur J Med Genet; 2019 Apr; 62(4):259-264. PubMed ID: 30075207
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Naseer MI; Rasool M; Jan MM; Chaudhary AG; Pushparaj PN; Abuzenadah AM; Al-Qahtani MH
J Neurol Sci; 2016 Dec; 371():121-125. PubMed ID: 27871432
[TBL] [Abstract][Full Text] [Related]
15. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Dinwiddie DL; Soden SE; Saunders CJ; Miller NA; Farrow EG; Smith LD; Kingsmore SF
BMC Med Genomics; 2013 Sep; 6():32. PubMed ID: 24044690
[TBL] [Abstract][Full Text] [Related]
16. PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P; Morice-Picard F; Pennamen P; Arveiler B; Fergelot P; Goizet C; Hellegouarch M; Lacombe D; Plaisant C; Raclet V; Rooryck C; Lasseaux E; Trimouille A
Am J Med Genet A; 2019 Jun; 179(6):1030-1033. PubMed ID: 30903679
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
Bae S; Yang A; Kim J; Lee HJ; Park HK
BMC Med Genomics; 2021 Dec; 14(1):297. PubMed ID: 34930245
[TBL] [Abstract][Full Text] [Related]
18. SHORT syndrome with microcephaly and developmental delay.
Patel V; Cui W; Cobben JM
Am J Med Genet A; 2023 Mar; 191(3):850-854. PubMed ID: 36515361
[TBL] [Abstract][Full Text] [Related]
19. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Rejeb I; Jilani H; Elaribi Y; Hizem S; Hila L; Zillahrdt JL; Chelly J; Benjemaa L
BMC Med Genet; 2017 Nov; 18(1):134. PubMed ID: 29149870
[TBL] [Abstract][Full Text] [Related]
20. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
Ben-Mahmoud A; Al-Shamsi AM; Ali BR; Al-Gazali L
J Mol Neurosci; 2020 Mar; 70(3):320-327. PubMed ID: 31721002
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]