160 related articles for article (PubMed ID: 34419044)
1. Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.
Li G; Chang G; Wang C; Yu T; Li N; Huang X; Wang X; Wang J; Wang J; Yao R
BMC Med Genomics; 2021 Aug; 14(1):207. PubMed ID: 34419044
[TBL] [Abstract][Full Text] [Related]
2. Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Majore S; Agolini E; Micale L; Pascolini G; Zuppi P; Cocciadiferro D; Morlino S; Mattiuzzo M; Valiante M; Castori M; Novelli A; Grammatico P
Clin Genet; 2021 Apr; 99(4):540-546. PubMed ID: 33372278
[TBL] [Abstract][Full Text] [Related]
3. Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in
Batu Oto B; Ağırbaşlı D; Kılıçarslan O; Celik G; Kalayci Yigin A; Seven M; Yetik H
Ophthalmic Genet; 2023 Feb; 44(1):70-73. PubMed ID: 35930384
[TBL] [Abstract][Full Text] [Related]
4. A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.
Al-Kindi A; Al-Shehhi M; Westenberger A; Beetz C; Scott P; Brandau O; Abbasi-Moheb L; Yüksel Z; Bauer P; Rolfs A; Grüning NM
J Hum Genet; 2020 Jan; 65(2):193-197. PubMed ID: 31767933
[TBL] [Abstract][Full Text] [Related]
5. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
Barraza-García J; Iván Rivera-Pedroza C; Salamanca L; Belinchón A; López-González V; Sentchordi-Montané L; del Pozo Á; Santos-Simarro F; Campos-Barros Á; Lapunzina P; Guillén-Navarro E; González-Casado I; García-Miñaur S; Heath KE
Am J Med Genet A; 2016 Jan; 170A(1):210-6. PubMed ID: 26374189
[TBL] [Abstract][Full Text] [Related]
6. SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Ko JM; Jung S; Seo J; Shin CH; Cheong HI; Choi M; Kim OH; Cho TJ
J Hum Genet; 2016 Jun; 61(6):561-4. PubMed ID: 26791357
[TBL] [Abstract][Full Text] [Related]
7. Further phenotypic features and two novel
Li S; Zhong Y; Yang Y; He S; He W
Mol Med Rep; 2021 Jul; 24(1):. PubMed ID: 33955509
[TBL] [Abstract][Full Text] [Related]
8. A syndromic extreme insulin resistance caused by biallelic
Giorgio E; Rubino E; Bruselles A; Pizzi S; Rainero I; Duca S; Sirchia F; Pasini B; Tartaglia M; Brusco A
Eur J Endocrinol; 2017 Nov; 177(5):K21-K27. PubMed ID: 28819016
[No Abstract] [Full Text] [Related]
9. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Koparir A; Karatas OF; Yuceturk B; Yuksel B; Bayrak AO; Gerdan OF; Sagiroglu MS; Gezdirici A; Kirimtay K; Selcuk E; Karabay A; Creighton CJ; Yuksel A; Ozen M
Hum Mol Genet; 2015 Oct; 24(19):5378-87. PubMed ID: 26162852
[TBL] [Abstract][Full Text] [Related]
10. SOFT Syndrome: The First Case in Iran.
Mostofizadeh N; Gheidarloo M; Hashemipour M; Dehkordi EH
Adv Biomed Res; 2018; 7():128. PubMed ID: 30310776
[TBL] [Abstract][Full Text] [Related]
11. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K; Capel E; Villanueva C; Gautheron J; Diallo S; Auclair M; Rondeau S; Morichon R; Brioude F; Jéru I; Rossi M; Nicolino M; Vigouroux C
Eur J Endocrinol; 2024 Feb; 190(2):151-164. PubMed ID: 38245004
[TBL] [Abstract][Full Text] [Related]
12. SOFT syndrome in a patient from Chile.
Saida K; Silva S; Solar B; Fujita A; Hamanaka K; Mitsuhashi S; Koshimizu E; Mizuguchi T; Miyatake S; Takata A; Miyake N; Matsumoto N
Am J Med Genet A; 2019 Mar; 179(3):338-340. PubMed ID: 30569574
[TBL] [Abstract][Full Text] [Related]
13. Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V; Huang-Doran I; Al-Naqeb D; Basaure J; Castiglioni C; de Bruin C; Hendriks Y; Bertini E; Alkuraya FS; Losekoot M; Al-Rubeaan K; Semple RK; Wit JM
Eur J Endocrinol; 2022 Mar; 186(5):543-552. PubMed ID: 35234134
[TBL] [Abstract][Full Text] [Related]
14. Truncation of POC1A associated with short stature and extreme insulin resistance.
Chen JH; Segni M; Payne F; Huang-Doran I; Sleigh A; Adams C; ; Savage DB; O'Rahilly S; Semple RK; Barroso I
J Mol Endocrinol; 2015 Oct; 55(2):147-58. PubMed ID: 26336158
[TBL] [Abstract][Full Text] [Related]
15. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O; Nahum S; Rapaport D; Ishida-Yamamoto A; Fuchs-Telem D; Qiaoli L; Cohen-Katsenelson K; Spiegel R; Nousbeck J; Israeli S; Borochowitz ZU; Padalon-Brauch G; Uitto J; Horowitz M; Shalev S; Sprecher E
Am J Hum Genet; 2012 Aug; 91(2):337-42. PubMed ID: 22840363
[TBL] [Abstract][Full Text] [Related]
16. Case Report: Identification of a rare nonsense mutation in the
Li D; Li S; Zhou J; Zheng L; Liu G; Ding C; Yuan X
Front Genet; 2023; 14():1113314. PubMed ID: 37056285
[No Abstract] [Full Text] [Related]
17. A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
Wang J; Wang X; Jia Y; Li X; Liu G; Sa R; Yu H
Mol Genet Genomic Med; 2023 Aug; 11(8):e2183. PubMed ID: 37157924
[TBL] [Abstract][Full Text] [Related]
18. SOFT syndrome with kohlschutter-Tonz syndrome.
Mondkar SA; Khadilkar V; Kasegaonkar P; Khadilkar A
J Postgrad Med; 2024; 70(1):56-59. PubMed ID: 37706418
[TBL] [Abstract][Full Text] [Related]
19. Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome.
Jiang L; Chen X; Zheng J; Wang M; Bo H; Liu G
Front Pediatr; 2022; 10():933108. PubMed ID: 36071887
[TBL] [Abstract][Full Text] [Related]
20. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Feng B; Chang G; Zhang Q; Li X; Tang Y; Gu S; Wang Y; Wang J; Wang X
Mol Genet Genomic Med; 2022 Jun; 10(6):e1951. PubMed ID: 35434947
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
