 Craniofacial Abnormalities
"Craniofacial Abnormalities" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
| Descriptor ID |
D019465
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| MeSH Number(s) |
C05.660.207 C16.131.621.207
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Craniofacial Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Craniofacial Abnormalities".
This graph shows the total number of publications written about "Craniofacial Abnormalities" by people in this website by year, and whether "Craniofacial Abnormalities" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 | | 2015 | 2 | 0 | 2 | | 2016 | 1 | 0 | 1 | | 2017 | 0 | 1 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 2 | 0 | 2 |
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Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
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Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altm?ller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Co?slier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 10; 28(10):1422-1431.
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Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610.
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Porath B, Farooki S, Gener M, Amudhavalli SM, Grote L, Cooley LD, Ginn K, Farooqi MS. Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. Clin Genet. 2020 04; 97(4):670-671.
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Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 08 01; 26(15):2838-2849.
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Bhatti D, Balasetti V, Malgireddy K, Rush ET, Torres-Russotto D. Tourette syndrome, obsessive compulsive behavior, and dysmorphic features in a patient with deletions at chromosome 18q22.1 and chromosome 13q12.3-q13.1. Parkinsonism Relat Disord. 2016 11; 32:133-134.
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Rush ET, Schaefer GB, Sanger WG, Coccia PF. Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. Cytogenet Genome Res. 2015; 147(1):31-4.
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Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 Jun; 60(6):339-42.
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Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. Am J Med Genet A. 2013 Feb; 161A(2):320-6.
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Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005 Apr; 42(4):318-21.
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Ng JM, Vrieling H, Sugasawa K, Ooms MP, Grootegoed JA, Vreeburg JT, Visser P, Beems RB, Gorgels TG, Hanaoka F, Hoeijmakers JH, van der Horst GT. Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B. Mol Cell Biol. 2002 Feb; 22(4):1233-45.
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