Disease: Hypertelorism with esophageal abnormality and hypospadias
- <em>SPECC1L</em> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
- A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant
- A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain
- A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome
- A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome
- A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum
- A Novel Treatment of Nasal Stenosis Using Steel Gauging Earrings
- A structure-function study of MID1 mutations associated with a mild Opitz phenotype
- Absence of the RING domain in <em>MID1</em> results in patterning defects in the developing human brain
- Auditory findings and electrophysiologics in individuals with G/BBB syndrome
- Case of polyhydramnios complicated by Opitz G/BBB syndrome
- Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses
- Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
- Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome
- Control of mTORC1 signaling by the Opitz syndrome protein MID1
- Dental treatment of a patient with Opitz G/BBB syndrome
- Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome
- Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
- Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
- First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature
- Frontoethmoidal meningoencephalocele: appraisal of 200 operated cases
- Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia
- G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography
- G syndrome: a review of the literature and a case report
- Genetic factors in isolated and syndromic laryngeal cleft
- Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
- Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome
- Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene
- Laryngeal cleft: Diagnosis and endoscopic surgical treatment. Report of 2 cases
- Malformation syndromes associated with disorders of sex development
- Management of congenital cartilaginous sleeve trachea in children
- MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac
- MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified
- MID1 mutations in patients with X-linked Opitz G/BBB syndrome
- Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice
- Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
- Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant
- Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
- Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
- Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
- Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease
- Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1)
- R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome
- Reference ranges for standard-echocardiography in pugs and impact of clinical severity of Brachycephalic Obstructive Airway Syndrome (BOAS) on echocardiographic parameters
- Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome
- Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz-GBBB syndrome: a case report
- Sudden death in childhood in a case of the G syndrome
- Surgical management for posterior laryngeal cleft developing subglottic airway obstruction
- Surgical management of penoscrotal hypospadias in a child with Opitz G/BBB syndrome: a case report
- The Caenorhabditis elegans homolog of the Opitz syndrome gene, madd-2/Mid1, regulates anchor cell invasion during vulval development
- The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35
- The T. G. Morton syndrome and the skeletal structure of the foot
- Two Novel Pathogenic <em>MID1</em> Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
- Type 2 laryngeal cleft associated with OpitzG/BBB syndrome
- X-linked microtubule-associated protein, Mid1, regulates axon development
- X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
- XLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding