Craniofacial Abnormalities - Genetics
Research News and Information

Sunday, November 22, 2009

Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins.

10 Aug 2009 Basonuclin 2 is a recently discovered zinc finger protein of unknown function. Its paralog, basonuclin 1, is associated with the ability of keratinocytes to multiply. The basonuclin zinc fingers are closely related to those of the Drosophila ... Read more...

Genetic studies of craniofacial anomalies: clinical implications and applications.

30 Jul 2009 The objective of the study was to overview the role of genetic research in fostering translational studies of craniofacial diseases of dental interest. Background information is presented to illustrate influences affecting genetic research studies ... Read more...

Mosaic trisomy 21/monosomy 21 in a living female infant.

12 Jul 2009 Many autosomal monosomies are presumed to end in arrested growth in the first few mitoses, prior even to the time of implantation, with possibly some proceeding to the stage of occult abortion. The single exception may be monosomy 21, although this ... Read more...

Latest indexed articles for 'Craniofacial Abnormalities - Genetics'

These are the very latest articles for this heading:

• Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins. 10 Aug 2009
• Genetic studies of craniofacial anomalies: clinical implications and applications. 30 Jul 2009
• Mosaic trisomy 21/monosomy 21 in a living female infant. 12 Jul 2009
• Anesthetic management of a child with Costello syndrome complicated by congenital absence of the portal vein--a case report. 29 Jun 2009
• Disc1 regulates foxd3 and sox10 expression, affecting neural crest migration and differentiation. 29 Jun 2009
• A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 29 Jun 2009
• TPM3 mutation in one of the original cases of cap disease. 31 May 2009
• LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants. 30 May 2009
• Alternative splicing, phylogenetic analysis, and craniofacial expression of zebrafish tbx22. 30 May 2009
• Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication. 30 May 2009
• A clinical study of Sotos syndrome patients with review of the literature. 29 Apr 2009
• Craniometaphyseal dysplasia: a case report. 29 Apr 2009
• Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. 29 Apr 2009
• Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome? 29 Apr 2009
• aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. 29 Apr 2009
• Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. 28 Apr 2009
• Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. 18 Apr 2009
• Phenotypic variation in FAM83H-associated amelogenesis imperfecta. 30 Mar 2009
• Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 23 Mar 2009
• Frank-ter Haar syndrome with unusual clinical features. 17 Mar 2009

See a longer list of these articles.

Technical information about 'Craniofacial Abnormalities'

Definition: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Descriptor UI: D019465

Alternative terms: Craniofacial Abnormalities; Abnormalities, Craniofacial; Abnormality, Craniofacial; Craniofacial Abnormality;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C05.660.207; C16.131.621.207;

History Note: 97

Technical Notes: GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CRANIOFACIAL ABNORM