150 related articles for article (PubMed ID: 33765348)
1. MASP1-related 3MC syndrome in a patient from Turkey.
Durmaz CD; Altıner Ş
Am J Med Genet A; 2021 Jul; 185(7):2267-2270. PubMed ID: 33765348
[TBL] [Abstract][Full Text] [Related]
2. Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
Lawson C; Blakemore KJ; Ryan R; Hooper JE; Tsimis M; Jelin A
Am J Med Genet A; 2020 Jul; 182(7):1812-1814. PubMed ID: 32441374
[TBL] [Abstract][Full Text] [Related]
3. Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Urquhart J; Roberts R; de Silva D; Shalev S; Chervinsky E; Nampoothiri S; Sznajer Y; Revencu N; Gunasekera R; Suri M; Ellingford J; Williams S; Bhaskar S; Clayton-Smith J
Am J Med Genet A; 2016 May; 170A(5):1216-24. PubMed ID: 26789649
[TBL] [Abstract][Full Text] [Related]
4. Association of Polymorphisms of
Gajek G; Świerzko AS; Cedzyński M
Int J Mol Sci; 2020 Jul; 21(15):. PubMed ID: 32751929
[TBL] [Abstract][Full Text] [Related]
5. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C; Diaz-Font A; Osborn DP; Chabchoub E; Hernandez-Hernandez V; Shamseldin H; Kenny J; Waters A; Jenkins D; Kaissi AA; Leal GF; Dallapiccola B; Carnevale F; Bitner-Glindzicz M; Lees M; Hennekam R; Stanier P; Burns AJ; Peeters H; Alkuraya FS; Beales PL
Nat Genet; 2011 Mar; 43(3):197-203. PubMed ID: 21258343
[TBL] [Abstract][Full Text] [Related]
6. Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
Gardner OK; Haynes K; Schweitzer D; Johns A; Magee WP; Urata MM; Sanchez-Lara PA
Cleft Palate Craniofac J; 2017 Nov; 54(6):739-748. PubMed ID: 27356087
[TBL] [Abstract][Full Text] [Related]
7. COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM; Diaz-Font A; Ocaka L; Henriksen ML; Lees M; Brady A; Jenkins D; Morton J; Hansen SW; Bacchelli C; Beales PL; Hernandez-Hernandez V
PLoS Genet; 2017 Mar; 13(3):e1006679. PubMed ID: 28301481
[TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.
Mohammadi P; Salehi Siavashani E; Mohammadi MF; Bahramy A; Almadani N; Garshasbi M
Mol Genet Genomic Med; 2021 Nov; 9(11):e1834. PubMed ID: 34636477
[TBL] [Abstract][Full Text] [Related]
9. Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.
Graul-Neumann LM; Mensah MA; Klopocki E; Uebe S; Ekici AB; Thiel CT; Reis A; Zweier C
Eur J Med Genet; 2018 Jul; 61(7):363-368. PubMed ID: 29407414
[TBL] [Abstract][Full Text] [Related]
10. Novel mutation in MASP1 gene in a new family with 3MC syndrome.
Basdemirci M; Sen A; Ceylaner S
Clin Dysmorphol; 2019 Apr; 28(2):91-93. PubMed ID: 30601195
[No Abstract] [Full Text] [Related]
11. Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel
Agaoglu NB; Akgun Dogan O
Mol Syndromol; 2021 Oct; 12(6):379-385. PubMed ID: 34899147
[TBL] [Abstract][Full Text] [Related]
12. 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Ashton CJ; Perveen R; Beaman G; Crisponi G; González-Del Angel A; Garza-Mayén G; Alcántara-Ortigoza MA; O'Sullivan J; Clayton-Smith J
Clin Dysmorphol; 2023 Jan; 32(1):7-13. PubMed ID: 36503917
[TBL] [Abstract][Full Text] [Related]
13. A novel COLEC10 mutation in a child with 3MC syndrome.
Migliorero M; Kalantari S; Bracciamà V; Sorbini M; Arruga F; Peruzzi L; Biamino E; Amoroso A; Vaisitti T; Deaglio S
Eur J Med Genet; 2021 Dec; 64(12):104374. PubMed ID: 34740859
[TBL] [Abstract][Full Text] [Related]
14. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Sirmaci A; Walsh T; Akay H; Spiliopoulos M; Sakalar YB; Hasanefendioğlu-Bayrak A; Duman D; Farooq A; King MC; Tekin M
Am J Hum Genet; 2010 Nov; 87(5):679-86. PubMed ID: 21035106
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Rabin R; Hirsch Y; Chung WK; Ekstein J; Levy-Lahad E; Zuckerman S; Mor-Shaked H; Meiner V; Booth KT; Pappas J
Am J Med Genet A; 2022 Oct; 188(10):3110-3117. PubMed ID: 35943032
[TBL] [Abstract][Full Text] [Related]
16. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Titomanlio L; Bennaceur S; Bremond-Gignac D; Baumann C; Dupuy O; Verloes A
Am J Med Genet A; 2005 Sep; 137A(3):332-5. PubMed ID: 16096999
[TBL] [Abstract][Full Text] [Related]
17.
Plassche SV; Brouwer AP
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925166
[TBL] [Abstract][Full Text] [Related]
18. 'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'.
Aygün B; Gülcü Üstün NS
Psychiatr Genet; 2023 Aug; 33(4):164-B2. PubMed ID: 37463393
[TBL] [Abstract][Full Text] [Related]
19. Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?
Al Kaissi A; Klaushofer K; Safi H; Chehida FB; Ghachem MB; Chaabounni M; Hennekam RC
Am J Med Genet A; 2007 Feb; 143(4):349-54. PubMed ID: 17236195
[TBL] [Abstract][Full Text] [Related]
20. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG; Brown J; Gerber RJ; Fox J; Friez MJ; Lyons M; Schrier Vergano SA
Am J Med Genet A; 2015 Dec; 167A(12):3180-5. PubMed ID: 26338144
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
