Abnormalities, Multiple Concept

subject area of

• A Male Phenotype With Aicardi Syndrome  Journal Articles
• A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY  Journal Articles
• A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study  Journal Articles
• A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)  Journal Articles
• A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".  Journal Articles
• Abdominal distension in Kaufman‐McKusick syndrome  Journal Articles
• Achondroplasia–hypochondroplasia complex in a newborn infant  Journal Articles
• BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes  Journal Articles
• Baller‐Gerold syndrome associated with congenital hydrocephalus  Journal Articles
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Journal Articles
• Breakpoint localization of the marker chromosome associated with the cat eye syndrome.  Journal Articles
• CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions  Journal Articles
• Caruncle abnormalities in the oculo-auriculo-vertebral spectrum.  Journal Articles
• Caruncle abnormalities in the oculo‐auriculo‐vertebral spectrum  Journal Articles
• Central hypoventilation and diaphragmatic eventration: Diagnosis and management  Journal Articles
• Central nervous system malformations in ethylmalonic encephalopathy  Journal Articles
• Characterization of the Supernumerary Chromosome in Cat Eye Syndrome  Journal Articles
• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome  Journal Articles
• Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane  Journal Articles
• Cobblestone Lissencephaly in Schinzel-Giedion Syndrome  Journal Articles
• Combined posterior sagittal and three-flap anoplasty in the repair of anorectal anomalies  Journal Articles
• 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  Journal Articles
• De novo 1q32q44 duplication and distal 1q trisomy syndrome  Journal Articles
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome  Journal Articles
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Journal Articles
• DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.  Journal Articles
• Discordant fibular aplasia in twins  Journal Articles
• Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction.  Journal Articles
• Epilepsy in KBG Syndrome: Report of Additional Cases  Journal Articles
• Fanconi anemia in a child previously diagnosed as Baller‐Gerold syndrome  Journal Articles
• Fanconi's anemia: a clinico-hematological and cytogenetic study.  Journal Articles
• Fatal malformations of the larynx and upper trachea  Journal Articles
• Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases  Journal Articles
• Fetal survival following decapitation  Journal Articles
• Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome  Journal Articles
• Fibrochondrogenesis: Prenatal diagnosis and outcome  Journal Articles
• Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462  Journal Articles
• Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations  Journal Articles
• Going the distance: the influence of practice location on the Ontario Maternal Serum Screening Program.  Journal Articles
• Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome  Journal Articles
• Hirschsprung disease, postaxial polydactyly, and atrial septal defect  Journal Articles
• Hirschsprung's disease, imperforate anus, and Down's syndrome: A case report  Conferences
• Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency  Journal Articles
• Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome  Journal Articles
• Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis  Journal Articles
• Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome  Journal Articles
• Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele  Journal Articles
• Laparoscopic versus open repair of recto-bladderneck and recto-prostatic anorectal malformations: a systematic review and meta-analysis  Journal Articles
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Journal Articles
• Leukotrienes and the brain  Journal Articles
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis  Journal Articles
• Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.  Journal Articles
• Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases  Journal Articles
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Journal Articles
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Journal Articles
• Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death  Journal Articles
• Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism  Journal Articles
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Journal Articles
• Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome  Journal Articles
• Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome  Journal Articles
• Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients  Journal Articles
• Noninvasive investigation of asymmetrically conjoined tripus twins with features of rachipagus, parapagus dicephalus, and cephalopagus  Journal Articles
• Normal IQ is possible in Smith‐Lemli‐Opitz syndrome  Journal Articles
• Ontario Maternal Serum Screening Program: practices, knowledge and opinions of health care providers.  Journal Articles
• Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification  Journal Articles
• Orbital lymphangioma with non‐contiguous cerebral arteriovenous malformation, manifesting with thrombocytopenia (Kasabach‐Merritt syndrome) and intracerebral hemorrhage  Journal Articles
• Outcomes of neonatal patent ductus arteriosus ligation in Canadian neonatal units with and without pediatric cardiac surgery programs  Conferences
• Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis  Journal Articles
• Potential teratogenic effects of allopurinol: A case report  Journal Articles
• Production and Characterization of Monoclonal Antibodies to ARVCF  Journal Articles
• Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon  Journal Articles
• Ring chromosome 22 and autism: Report and review  Journal Articles
• Risk factors for poor bone health in adolescents and adults with CHARGE syndrome  Journal Articles
• Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome.  Journal Articles
• Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?  Journal Articles
• Shwachman–Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis  Journal Articles
• Single umbilical artery: its incidence and associated congenital malformations.  Journal Articles
• Sirenomelia: An anatomical assessment and genetic sex determination of two cases  Journal Articles
• Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers  Journal Articles
• Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”  Journal Articles
• Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2  Journal Articles
• The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature  Journal Articles
• The defining DNA methylation signature of Floating-Harbor Syndrome  Journal Articles
• The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance  Journal Articles
• The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy  Journal Articles
• The multiple facets of pulmonary sequestration  Conferences
• The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Journal Articles
• Tracheoesophageal fistula: a case report  Journal Articles
• Tracheoscopic endotracheal occlusion in the ovine model: Technique and pulmonary effects  Conferences
• Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings  Journal Articles
• Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature  Journal Articles
• Two b-c translocations specifically identified by 'banding' techniques as 46, XY,t(5p+6q-) and 46,XX,t(4q-7p+).  Journal Articles
• Unusual dicentric chromosome 22 associated with a 22q13 deletion  Journal Articles
• Varicella, Herpes Zoster Infections, and Congenital Defects  Journal Articles
• Vesicostomy and Colostomy in a Premature Neonate With Posterior Urethral Valves, Bilateral Dysplastic Kidneys, and High Imperforate Anus: The Challenge of Stoma Placement  Journal Articles
• Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Journal Articles
• Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p  Journal Articles
• [Cross-sectional study of deviated nasal septum in unilaterally operated fissures].  Journal Articles
• [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].  Journal Articles