Published in Teratology on October 01, 1976
A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet (1982) 1.98
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Cranioectodermal dysplasia (Sensenbrenner's syndrome). J Med Genet (1989) 1.41
Phenotypic integration of neurocranium and brain. J Exp Zool B Mol Dev Evol (2006) 1.24
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet (1992) 1.11
Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst (2005) 1.03
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep (2014) 0.91
Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med (2013) 0.89
New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis. J Anat (2010) 0.88
Understanding craniosynostosis as a growth disorder. Wiley Interdiscip Rev Dev Biol (2016) 0.79
Rapidly polymerizing injectable click hydrogel therapy to delay bone growth in a murine re-synostosis model. Biomaterials (2014) 0.79
Perspectives on Craniosynostosis. West J Med (1980) 0.78
Autosomal dominant trigonocephaly. J Med Genet (1977) 0.75
Distraction Osteogenesis Technique for the Treatment of Nonsyndromic Sagittal Synostosis. Plast Reconstr Surg Glob Open (2015) 0.75
A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element. Am J Med Genet A (2017) 0.75
Down syndrome and recent demographic trends in Manitoba. J Med Genet (1978) 2.34
Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet (1978) 2.27
The chromosome constitution of 1000 human spermatozoa. Hum Genet (1983) 2.21
A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol (1997) 1.88
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. Am J Med Genet (1992) 1.63
VACTERL with hydrocephalus: further delineation of the syndrome(s) Am J Med Genet (1989) 1.55
Black grandmothers in multigenerational households: diversity in family structure and parenting involvement in the Woodlawn community. Child Dev (1990) 1.55
Phenotypic correlations in patients with ring chromosome 22. Clin Genet (1977) 1.54
Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin Genet (1982) 1.49
A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux. Am J Med Genet (1988) 1.47
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. Am J Med Genet (1992) 1.46
A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet (2000) 1.44
Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology (1977) 1.33
Counseling problems when twins are discovered at genetic amniocentesis. Clin Genet (1979) 1.28
A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus. Genomics (1989) 1.24
Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science (1993) 1.20
Neural tube defects in Eastern Ontario and Western Quebec: demography and family data. Am J Med Genet (1984) 1.19
The Coffin-Lowry syndrome. Experience from four centres. Clin Genet (1982) 1.18
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet (1996) 1.18
Pregnancy complications in type IV Ehlers-Danlos Syndrome. Lancet (1983) 1.16
Implications of malformations not due to amniotic bands in the amniotic band sequence. Am J Med Genet (1986) 1.11
A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet (1978) 1.11
Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population. Am J Hum Genet (1989) 1.10
Sweeteners, dyes, and other excipients in vitamin and mineral preparations. Clin Pediatr (Phila) (1996) 1.09
An epidemiological study of facial clefting in Manitoba. J Med Genet (1980) 1.07
Growth and development in thanatophoric dysplasia. Am J Med Genet (1989) 1.07
The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet (1985) 1.03
COFS syndrome revisited. Birth Defects Orig Artic Ser (1978) 1.00
Geroderma osteodysplastica. A report of two affected families. Hum Genet (1978) 0.97
Trigonocephaly and associated minor anomalies in mother and son. J Med Genet (1976) 0.95
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. Am J Med Genet (1979) 0.94
A dominantly inherited cytogenetic anomaly: a possible cell division mutant. Hum Genet (1983) 0.94
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am J Med Genet (1993) 0.94
Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis. Am J Med Genet (1993) 0.94
An outbreak of S typhimurium in sheep and its consequences. Vet Rec (1976) 0.93
Low rate of adequate folic acid supplementation in well-educated women of high socioeconomic status attending a genetics clinic. CMAJ (2001) 0.92
Mosaic tetrasomy 21 in a liveborn male infant. Clin Genet (1982) 0.92
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology (2001) 0.92
Gene deletion and duplication effects on phenotype and gamma globulin levels. J Med Genet (1971) 0.90
Is there a fetal gasoline syndrome? Teratology (1979) 0.90
Colostral constituents including immunoglobulins in the first three milkings postpartum. J Dairy Sci (1978) 0.89
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. Am J Med Genet (1990) 0.89
Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. Hum Genet (1986) 0.89
Distribution of Boophilus species ticks in Swaziland. Trop Anim Health Prod (1991) 0.88
Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome. Am J Med Genet (1982) 0.88
Characterization and isolation of a sperm-coating antigen from rabbit seminal plasma with capacity to block fertilization. J Reprod Fertil (1969) 0.88
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. J Med Genet (2004) 0.88
Partial trisomy 20 confirmed by gene dosage studies. Am J Med Genet (1979) 0.88
Effects of diet and time on blood serum proteins in the newborn calf. J Dairy Sci (1970) 0.87
Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings. Clin Genet (1974) 0.86
Seminal antigens: their alteration in the genital tract of female rabbits and during partial in vitro capacitation with beta amylase and beta glucuronidase. Biol Reprod (1972) 0.86
Interstitial deletion of the long arm of chromosome 10. Ann Genet (1980) 0.85
AvaII RFLP at the human apolipoprotein CII (APO CII) gene locus. Nucleic Acids Res (1987) 0.85
Inheritance of branchial sinuses and preauricular fistulae. Teratology (1974) 0.85
Prenatal ultrasonic diagnosis of occipital encephalocele. Am J Obstet Gynecol (1978) 0.84
IgA and partial deletions of chromosome 18. Lancet (1969) 0.84
A study of institutionalized mentally retarded patients in Manitoba. I: Classification and preventability. Dev Med Child Neurol (1980) 0.84
Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group. Am J Hum Genet (1995) 0.84
Kinetochore immunofluorescence in micronuclei: a rapid method for the in situ detection of aneuploidy and chromosome breakage in human fibroblasts. Mutat Res (1988) 0.83
Mosaicism in amniotic fluid cell cultures. Birth Defects Orig Artic Ser (1977) 0.83
Midtrimester genetic amniocentesis in eastern Ontario: a review from 1970 to 1985. J Med Genet (1987) 0.83
Maxillonasal dysplasia (Binder's syndrome). Plast Reconstr Surg (1979) 0.83
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. J Med Genet (2000) 0.83
Prenatal diagnosis of hypophosphatasia. N Engl J Med (1976) 0.82
Sex chromosome mosaicism not detected at amniocentesis. Prenat Diagn (1990) 0.82
Prenatal diagnosis by fetoscopy with subsequent normal delivery: report of a case. Am J Obstet Gynecol (1976) 0.82
Grandmother involvement in child caregiving in an urban community. Gerontologist (1997) 0.82
Deletion and uniparental disomy involving the same maternal chromosome 15. N Engl J Med (1994) 0.82
Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son. Am J Med Genet (1986) 0.82
Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes. Am J Med Genet (1997) 0.82
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. Hum Genet (1987) 0.82
Prenatal diagnosis of hypophosphatasia. Birth Defects Orig Artic Ser (1976) 0.81
Why patients do not attend for their appointments at a genetics clinic. J Med Genet (2000) 0.81
Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8). Ann Genet (1980) 0.81
Detection at amniocentesis of a maternally inherited X;Y translocation. Clin Genet (1985) 0.81
Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. Hum Genet (1976) 0.81
Differentiation of rabbit sperm antigens from those of seminal plasma. J Reprod Fertil (1969) 0.80
Family structure and aggressive behavior in a population of urban elementary school children. J Am Acad Child Adolesc Psychiatry (1994) 0.80
Cebocephaly in an infant with trisomy 18. J Med Genet (1977) 0.80
Urine odour in a camel suffering from surra (T. evansi infection). Trop Anim Health Prod (1986) 0.80
Aphosphorosis in North Yemen cattle. Trop Anim Health Prod (1982) 0.80
The antenatal diagnosis of genetic disease. Am J Obstet Gynecol (1974) 0.80
A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum Genet (1984) 0.80
Degenerative myopathy in housed yearling bulls. Vet Rec (1977) 0.79
Rodent vectors of Salmonella. Vet Rec (1976) 0.79
Heterozygote advantage of the MTHFR gene in patients with neural-tube defect and their relatives. Lancet (1998) 0.79
A supernumerary "G" like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl. Clin Genet (1979) 0.79
Familial pyloric atresia associated with epidermolysis bullosa. J Pediatr (1978) 0.78
Effect of season on seminal traits and serum hormone concentrations in captive male Siberian tigers (Panthera tigris). J Reprod Fertil (1990) 0.78
Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour. Eur J Med Genet (2010) 0.78
Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. J Med Genet (1981) 0.78
A possible primidone embryopathy. J Pediatr (1979) 0.78
A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. J Med Genet (1977) 0.78
Regional histology and histochemistry of the ductus epididymis in the rhesus monkey (Macaca mulatta). Biol Reprod (1978) 0.78
Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis. Clin Genet (1987) 0.78
Infant outcome following mid-trimester amniocentesis: development and physical status at age six months. Br J Obstet Gynaecol (1985) 0.78
In-vitro induction of capacitation of fresh and frozen spermatozoa of the Siberian tiger (Panthera tigris). J Reprod Fertil (1989) 0.78
Identification of the capacitating agent for bovine sperm in egg yolk-TEST semen extender. J Dairy Sci (1989) 0.78