148 related articles for article (PubMed ID: 36251212)
1. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
Elaraby NM; Ahmed HA; Ashaat NA; Tawfik S; Ahmed MKH; Hassib NF; Ashaat EA
J Mol Neurosci; 2022 Nov; 72(11):2242-2251. PubMed ID: 36251212
[TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic
Kang Q; Kang H; Tang J; Wang M; Jiang H; Ning Z; Wu L
Front Neurosci; 2024; 18():1301865. PubMed ID: 38800572
[TBL] [Abstract][Full Text] [Related]
3. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary HM; Marafi D; Saad AK; Elhossini R; Duan R; Rafat K; Jhangiani SN; Gibbs RA; Pehlivan D; Calame DG; Posey JE; Lupski JR; Zaki MS
Clin Genet; 2023 Sep; 104(3):344-349. PubMed ID: 37157980
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S; Mor-Shaked H; Shaag A; Porat S; Daum H
Eur J Med Genet; 2023 Oct; 66(10):104825. PubMed ID: 37659595
[TBL] [Abstract][Full Text] [Related]
5. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T; Sloboda N; Goldenberg A; Küry S; Cogné B; Breheret F; Trochu E; Conrad S; Vincent M; Deb W; Balguerie X; Barbarot S; Baujat G; Ben-Omran T; Bursztejn AC; Carmignac V; Datta AN; Delignières A; Faivre L; Gardie B; Guéant JL; Kuentz P; Lenglet M; Nassogne MC; Ramaekers V; Schnur RE; Si Y; Torti E; Thevenon J; Vabres P; Van Maldergem L; Wand D; Wiedemann A; Cariou B; Redon R; Lamazière A; Bézieau S; Feillet F; Isidor B
Genet Med; 2019 Sep; 21(9):2025-2035. PubMed ID: 30723320
[TBL] [Abstract][Full Text] [Related]
6. Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Muzammal M; Ahmad S; Ali MZ; Khan MA
Ann Hum Genet; 2021 Sep; 85(5):147-154. PubMed ID: 33881165
[TBL] [Abstract][Full Text] [Related]
7. Identification of two novel and one rare mutation in
Huang C; Luo H; Zeng B; Feng C; Chen J; Yuan H; Huang S; Yang B; Zou Y; Liu Y
Front Genet; 2023; 14():1290949. PubMed ID: 38179410
[No Abstract] [Full Text] [Related]
8. A novel variant in NSUN2 causes intellectual disability in a Chinese family.
Yang Q; Zhang Q; Qin Z; Yi S; Luo J
BMC Med Genomics; 2024 Apr; 17(1):95. PubMed ID: 38643142
[TBL] [Abstract][Full Text] [Related]
9. A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.
Guo D; Zhang Q
Am J Med Genet A; 2023 Sep; 191(9):2398-2401. PubMed ID: 37455568
[TBL] [Abstract][Full Text] [Related]
10. Case Report: Chinese female patients with a heterozygous pathogenic
Cong Y; Jin H; Wu K; Wang H; Wang D
Front Genet; 2022; 13():900226. PubMed ID: 36046249
[No Abstract] [Full Text] [Related]
11. Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM; Al Suwaidi HH; Sajjad Y; Bricker L
Eur J Med Genet; 2022 May; 65(5):104501. PubMed ID: 35378319
[TBL] [Abstract][Full Text] [Related]
12. A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.
Elbagoury NM; Abdel-Aleem AF; Sharaf-Eldin WE; Ashaat EA; Esswai ML
J Mol Neurosci; 2023 Dec; 73(11-12):976-982. PubMed ID: 37924468
[TBL] [Abstract][Full Text] [Related]
13. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J; Xia Z; Zhou Y; Ma X; Wang X; Guo Q
BMC Med Genomics; 2021 Mar; 14(1):68. PubMed ID: 33653342
[TBL] [Abstract][Full Text] [Related]
14. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.
Yang F; Jiang X; Zhu Y; Lee M; Xu Z; Zhang J; Li Q; Lin MY; Wang H; Lin Z
J Invest Dermatol; 2022 Oct; 142(10):2687-2694.e2. PubMed ID: 35413293
[TBL] [Abstract][Full Text] [Related]
15. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
16. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
Torun D; Arslan M; Çavdarlı B; Akar H; Cram DS
Turk J Pediatr; 2022; 64(5):956-963. PubMed ID: 36305450
[TBL] [Abstract][Full Text] [Related]
17. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
18. Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.
Kose CC; Kaya D; Akcan MB; Silan F
Am J Med Genet A; 2023 Aug; 191(8):2209-2214. PubMed ID: 37190896
[TBL] [Abstract][Full Text] [Related]
19. Novel Missense Variant in Heterozygous State in the
Naseer MI; Abdulkareem AA; Guzmán-Vega FJ; Arold ST; Pushparaj PN; Chaudhary AG; AlQahtani MH
Front Genet; 2020; 11():368. PubMed ID: 32457794
[TBL] [Abstract][Full Text] [Related]
20. A novel homozygous mutation in
Zhao B; Tang Y; Chen W; Wan H; Yang J; Chen X
Front Physiol; 2022; 13():992190. PubMed ID: 36685177
[No Abstract] [Full Text] [Related]
[Next] [New Search]