• <em>SPECC1L</em> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
• A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13
• 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 new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar
• A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes
• A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
• A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type
• A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin
• A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum
• A Novel Treatment of Nasal Stenosis Using Steel Gauging Earrings
• Absence of the RING domain in <em>MID1</em> results in patterning defects in the developing human brain
• Additional EFNB1 mutations in craniofrontonasal syndrome
• Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome
• Atrioventricular block and wiry hair in Teebi hypertelorism syndrome
• Auditory findings and electrophysiologics in individuals with G/BBB syndrome
• Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?
• Cancer in Sotos syndrome: report of a patient with acute myelocytic leukemia and review of the literature
• Choanal and ileal atresia: a new syndrome or association?
• Clinical and genetic aspects of trigonocephaly: a study of 25 cases
• CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
• Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses
• Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene
• Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome
• Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum?
• Control of mTORC1 signaling by the Opitz syndrome protein MID1
• Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
• Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome
• Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome?
• Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance
• Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene
• Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)
• Dental treatment of a patient with Opitz G/BBB syndrome
• Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
• 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
• Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings
• Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi
• Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome
• Frontoethmoidal meningoencephalocele: appraisal of 200 operated cases
• Further delineation of the Van den Ende-Gupta syndrome
• Genetic analysis of patients with the Saethre-Chotzen phenotype
• Genetic diversity among the Arabs
• Genetic factors in isolated and syndromic laryngeal cleft
• Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing
• Human chromosome 7: DNA sequence and biology
• Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome
• 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
• Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
• Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs
• Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review
• Laryngeal cleft: Diagnosis and endoscopic surgical treatment. Report of 2 cases
• Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?
• Management of congenital cartilaginous sleeve trachea in children
• Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings
• Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
• Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification
• Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)
• Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
• Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis
• Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
• Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome
• 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
• Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar
• Nablus mask-like facial syndrome
• Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization
• Nablus syndrome: Easy to diagnose yet difficult to solve
• Naming of a syndrome: the story of "Adam Wright" syndrome
• New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome
• Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
• Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas 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 heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene
• Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
• Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: a new syndrome?
• 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
• Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
• Screening of patients with craniosynostosis: molecular strategy
• Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2
• Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?
• Structural central nervous system (CNS) anomalies in Kabuki 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
• Surgical management of penoscrotal hypospadias in a child with Opitz G/BBB syndrome: a case report
• Teebi hypertelorism syndrome
• Teebi hypertelorism syndrome: additional cases
• Teebi hypertelorism syndrome: report of a family with previously unrecognized findings
• The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature
• The Greig cephalopolysyndactyly syndrome
• The incidence patterns of Down syndrome in Qatar
• Three patients resembling Teebi-Shaltout syndrome
• Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?
• Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome?
• Type 2 laryngeal cleft associated with OpitzG/BBB syndrome
• What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome