278 related articles for article (PubMed ID: 37372360)
1. Clinical Heterogeneity and Different Phenotypes in Patients with
Parra A; Rabin R; Pappas J; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; Santana A; Arroyo I; Artigas M; Pachajoa H; Alanay Y; Akgun-Dogan O; Ruaud L; Couque N; Levy J; Porras-Hurtado GL; Santos-Simarro F; Ballesta-Martinez MJ; Guillén-Navarro E; Muñoz-Hernández H; Nevado J; Spanish OverGrowth Registry Initiative ; Tenorio-Castano J; Lapunzina P
Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372360
[TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of
Zhang Y; Zhang H; Wu W; Wang D; Lv Y; Zhao D; Wang L; Liu Y; Zhang K
Front Genet; 2023; 14():1081391. PubMed ID: 36777730
[No Abstract] [Full Text] [Related]
3. Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R; Radmanesh A; Glass IA; Dobyns WB; Aldinger KA; Shieh JT; Romoser S; Bombei H; Dowsett L; Trapane P; Bernat JA; Baker J; Mendelsohn NJ; Popp B; Siekmeyer M; Sorge I; Sansbury FH; Watts P; Foulds NC; Burton J; Hoganson G; Hurst JA; Menzies L; Osio D; Kerecuk L; Cobben JM; Jizi K; Jacquemont S; Bélanger SA; Löhner K; Veenstra-Knol HE; Lemmink HH; Keller-Ramey J; Wentzensen IM; Punj S; McWalter K; Lenberg J; Ellsworth KA; Radtke K; Akbarian S; Pappas J
Am J Med Genet A; 2020 Sep; 182(9):2037-2048. PubMed ID: 32710489
[TBL] [Abstract][Full Text] [Related]
4. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
van Rij MC; Hollink IHIM; Terhal PA; Kant SG; Ruivenkamp C; van Haeringen A; Kievit JA; van Belzen MJ
Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085
[TBL] [Abstract][Full Text] [Related]
5. A novel
Wu Y; Liu F; Wan R; Jiao B
Front Genet; 2023; 14():1153284. PubMed ID: 37025455
[No Abstract] [Full Text] [Related]
6. A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling.
Suda K; Fukuoka H; Iguchi G; Kanie K; Fujita Y; Odake Y; Matsumoto R; Bando H; Ito H; Takahashi M; Chihara K; Nagai H; Narumi S; Hasegawa T; Ogawa W; Takahashi Y
J Clin Endocrinol Metab; 2021 Mar; 106(3):718-723. PubMed ID: 33248444
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
Lumish HS; Wynn J; Devinsky O; Chung WK
J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
[TBL] [Abstract][Full Text] [Related]
12. Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.
Chen M; Quan Y; Duan G; Wu H; Bai T; Wang Y; Zhou S; Ou J; Shen Y; Hu Z; Xia K; Guo H
Eur J Med Genet; 2021 May; 64(5):104200. PubMed ID: 33766796
[TBL] [Abstract][Full Text] [Related]
13. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Marzin P; Rondeau S; Aldinger KA; Alessandri JL; Isidor B; Heron D; Keren B; Dobyns WB; Cormier-Daire V
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):509-518. PubMed ID: 31643139
[TBL] [Abstract][Full Text] [Related]
14. Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J; Gómez ÁS; Coronado M; Rodríguez-Martín P; Parra A; Pascual P; Cazalla M; Gallego N; Arias P; Morales AV; Nevado J; Lapunzina P
Clin Genet; 2023 Dec; 104(6):637-647. PubMed ID: 37702321
[TBL] [Abstract][Full Text] [Related]
15. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Lee S; Menzies L; Hay E; Ochoa E; Docquier F; Rodger F; Deshpande C; Foulds NC; Jacquemont S; Jizi K; Kiep H; Kraus A; Löhner K; Morrison PJ; Popp B; Richardson R; van Haeringen A; Martin E; Toribio A; Li F; Jones WD; Sansbury FH; Maher ER
Hum Mol Genet; 2023 Nov; 32(22):3123-3134. PubMed ID: 37166351
[TBL] [Abstract][Full Text] [Related]
16. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S; Levy AM; Punetha J; Gao H; Ah Mew N; Anyane-Yeboa K; Benke PJ; Berger SM; Bjerglund L; Campos-Xavier B; Ciliberto M; Cohen JS; Comi AM; Curry C; Damaj L; Denommé-Pichon AS; Emrick L; Faivre L; Fasano MB; Fiévet A; Finkel RS; García-Miñaúr S; Gerard A; Gomez-Puertas P; Guillen Sacoto MJ; Hoffman TL; Howard L; Iglesias AD; Izumi K; Larson A; Leiber A; Lozano R; Marcos-Alcalde I; Mintz CS; Mullegama SV; Møller RS; Odent S; Oppermann H; Ostergaard E; Pacio-Míguez M; Palomares-Bralo M; Parikh S; Paulson AM; Platzer K; Posey JE; Potocki L; Revah-Politi A; Rio M; Ritter AL; Robinson S; Rosenfeld JA; Santos-Simarro F; Sousa SB; ; Wéber M; Xie Y; Chung WK; Brown NJ; Tümer Z
Hum Mutat; 2022 Feb; 43(2):266-282. PubMed ID: 34859529
[TBL] [Abstract][Full Text] [Related]
17. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C; Blanco-Kelly F; López-Grondona F; Losada-Del Pozo R; Moreno B; Rodrigo-Moreno M; Martinez-Cayuelas E; Riveiro-Alvarez R; Fenollar-Cortés M; Ayuso C; Rodríguez de Alba M; Lorda-Sanchez I; Almoguera B
Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573342
[TBL] [Abstract][Full Text] [Related]
18. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
19. Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M; Bolanowska-Tyszko A; Latos-Bielenska A; Jezela-Stanek A; Szczaluba K; Krajewska-Walasek M; Ciara E; Pelc M; Jurkiewicz D; Stawinski P; Zubkiewicz-Kucharska A; Rydzanicz M; Ploski R; Smigiel R
Mol Genet Genomic Med; 2023 Dec; 11(12):e2265. PubMed ID: 37658610
[TBL] [Abstract][Full Text] [Related]
20. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL
Blackburn PR; Tischer A; Zimmermann MT; Kemppainen JL; Sastry S; Knight Johnson AE; Cousin MA; Boczek NJ; Oliver G; Misra VK; Gavrilova RH; Lomberk G; Auton M; Urrutia R; Klee EW
J Biol Chem; 2017 Mar; 292(9):3866-3876. PubMed ID: 28057753
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]