Abnormalities, Multiple Concept

subject area of

• A Male Phenotype With Aicardi Syndrome  Academic Article
• A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY  Academic Article
• A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study  Academic Article
• A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)  Academic Article
• A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".  Academic Article
• Abdominal distension in Kaufman-McKusick syndrome  Academic Article
• Achondroplasia–hypochondroplasia complex in a newborn infant  Academic Article
• BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes  Academic Article
• Baller-Gerold syndrome associated with congenital hydrocephalus  Academic Article
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Academic Article
• Breakpoint localization of the marker chromosome associated with the cat eye syndrome.  Academic Article
• CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions  Academic Article
• Caruncle abnormalities in the oculo-auriculo-vertebral spectrum.  Academic Article
• Central hypoventilation and diaphragmatic eventration: Diagnosis and management  Academic Article
• Central nervous system malformations in ethylmalonic encephalopathy  Academic Article
• Characterization of the Supernumerary Chromosome in Cat Eye Syndrome  Academic Article
• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome  Academic Article
• Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane  Academic Article
• Cobblestone Lissencephaly in Schinzel-Giedion Syndrome  Academic Article
• Combined posterior sagittal and three-flap anoplasty in the repair of anorectal anomalies  Academic Article
• Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome  Academic Article
• De novo 1q32q44 duplication and distal 1q trisomy syndrome  Academic Article
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome  Academic Article
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Academic Article
• DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.  Academic Article
• Discordant fibular aplasia in twins  Academic Article
• Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction.  Academic Article
• FATAL MALFORMATIONS OF THE LARYNX AND UPPER TRACHEA  Academic Article
• Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome  Academic Article
• Fanconi's anemia: a clinico-hematological and cytogenetic study.  Academic Article
• Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases  Academic Article
• Fetal survival following decapitation  Academic Article
• Fetus with renal agenesis and smith-Lemli-Opitz syndrome  Academic Article
• Fibrochondrogenesis: Prenatal diagnosis and outcome  Academic Article
• Fryns syndrome: A rare familial cause of congenital diaphragmatic hernia  Academic Article
• Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations  Academic Article
• Going the distance: the influence of practice location on the Ontario Maternal Serum Screening Program.  Academic Article
• Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome  Academic Article
• Hirschsprung disease, postaxial polydactyly, and atrial septal defect  Academic Article
• Hirschsprung's disease, imperforate anus, and Down's syndrome: A case report  Conference Paper
• Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency  Academic Article
• Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome  Academic Article
• Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis  Academic Article
• Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome  Academic Article
• Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele  Academic Article
• Laparoscopic versus open repair of recto-bladderneck and recto-prostatic anorectal malformations: a systematic review and meta-analysis  Academic Article
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Academic Article
• Leukotrienes and the brain  Academic Article
• Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations  Academic Article
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis  Academic Article
• Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.  Academic Article
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Academic Article
• Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death  Academic Article
• Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism  Academic Article
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Academic Article
• Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome  Academic Article
• Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome  Academic Article
• Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients  Academic Article
• Noninvasive investigation of asymmetrically conjoined tripus twins with features of rachipagus, parapagus dicephalus, and cephalopagus  Academic Article
• Normal IQ is possible in Smith-Lemli-Opitz syndrome  Academic Article
• Obstetrical and Pediatric Anesthesia Anesthetic management of children with Moebius sequence  Academic Article
• Ontario Maternal Serum Screening Program: practices, knowledge and opinions of health care providers.  Academic Article
• Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: A clarification  Academic Article
• Orbital lymphangioma with non-contiguous cerebral arteriovenous malformation, manifesting with thrombocytopenia (Kasabach-Merritt syndrome) and intracerebral hemorrhage  Academic Article
• Outcomes of neonatal patent ductus arteriosus ligation in Canadian neonatal units with and without pediatric cardiac surgery programs  Conference Paper
• Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis  Academic Article
• Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome  Academic Article
• Potential teratogenic effects of allopurinol: A case report  Academic Article
• Production and Characterization of Monoclonal Antibodies to ARVCF  Academic Article
• Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon  Academic Article
• Ring chromosome 22 and autism: Report and review  Academic Article
• Risk factors for poor bone health in adolescents and adults with CHARGE syndrome  Academic Article
• Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome.  Academic Article
• Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?  Academic Article
• Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis  Academic Article
• Single umbilical artery: its incidence and associated congenital malformations.  Academic Article
• Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers  Academic Article
• Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”  Academic Article
• Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involvesFOXP2  Academic Article
• The Roberts syndrome/SC phocomelia spectrum-A case report of an adult with review of the literature  Academic Article
• The defining DNA methylation signature of Floating-Harbor Syndrome  Academic Article
• The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance  Academic Article
• The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy  Academic Article
• The multiple facets of pulmonary sequestration  Conference Paper
• The oro-facial-digital syndrome  Academic Article
• The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Academic Article
• Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome  Academic Article
• Tracheoesophageal fistula: a case report  Academic Article
• Tracheoscopic endotracheal occlusion in the ovine model: Technique and pulmonary effects  Conference Paper
• Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature  Academic Article
• Two b-c translocations specifically identified by 'banding' techniques as 46, XY,t(5p+6q-) and 46,XX,t(4q-7p+).  Academic Article
• Unusual dicentric chromosome 22 associated with a 22q13 deletion  Academic Article
• Variability of the de Lange syndrome: Report of 3 cases and genetic analysis of 54 families  Academic Article
• Varicella, Herpes Zoster Infections, and Congenital Defects  Academic Article
• Vesicostomy and Colostomy in a Premature Neonate With Posterior Urethral Valves, Bilateral Dysplastic Kidneys, and High Imperforate Anus: The Challenge of Stoma Placement  Academic Article
• Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Academic Article
• Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p  Academic Article
• [Cross-sectional study of deviated nasal septum in unilaterally operated fissures].  Academic Article
• [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].  Academic Article