Multiple pterygium syndrome.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet (2006) 1.56

Popliteal pterygium syndrome. J Med Genet (1990) 1.43

Multiple pterygium syndrome: evolution of the phenotype. J Med Genet (1987) 1.32

An autosomal dominant multiple pterygium syndrome. J Med Genet (1988) 0.95

Escobar syndrome in three male patients of same family. Indian J Hum Genet (2011) 0.81

Anesthesic management for escobar syndrome: case report. Case Rep Med (2011) 0.81

Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery. Proc Natl Acad Sci U S A (2012) 0.80

Escobar syndrome mimicing congenital patellar syndrome. Eurasian J Med (2012) 0.75

Multiple pterygium syndrome: Challenge for anesthesiologist. Saudi J Anaesth (2016) 0.75

Multiple pterygium syndrome. J Med Genet (1981) 0.75

Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings. Eur J Pediatr (2014) 0.75

Socioeconomic factors and cancer incidence among blacks and whites. J Natl Cancer Inst (1991) 5.39

Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14

Salivary and pancreatic amylase: electrophoretic characterizations and genetic studies. Am J Hum Genet (1973) 3.12

Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet (1986) 2.95

Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet (1980) 2.51

Antibody to herpes simplex virus type 2 as a marker of sexual risk behavior in rural Tanzania. J Infect Dis (1999) 2.37

The burden of infection with HSV-1 and HSV-2 in England and Wales: implications for the changing epidemiology of genital herpes. Sex Transm Infect (2000) 2.25

Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet (1986) 2.23

A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol (1973) 2.16

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet (1986) 2.07

Firearm-related fatalities: an epidemiologic assessment of violent death. Am J Public Health (1985) 2.03

Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. Pediatrics (1990) 1.92

Black-white differences in cancer prevention knowledge and behavior. Am J Public Health (1991) 1.91

Vocational training and beyond--listening to voices from a void. Br J Gen Pract (1998) 1.86

The VATER association. Analysis of 46 patients. Am J Dis Child (1986) 1.78

Familial variation of head size and adjustment for parental head circumference. J Pediatr (1980) 1.76

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J Pediatr (1974) 1.73

The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. Clin Genet (1972) 1.63

Congenital contractural arachnodactyly. Report of four additional families and review of literature. Clin Genet (1985) 1.52

The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49

49,XXXXY: a distinct phenotype. Three new cases and review. J Med Genet (1998) 1.43

Epidemic of bronchiolitis in infants. BMJ (1992) 1.39

Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol (1985) 1.37

Human salivary amylase: genetics of electrophoretic variants. Am J Hum Genet (1971) 1.33

Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser (1974) 1.30

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser (1975) 1.29

Incidence of cleft lip and palate in the offspring of cleft parents. Clin Genet (1971) 1.29

Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet (1976) 1.28

A structured assessment of newly qualified medical graduates. Med Educ (2005) 1.28

Simplified method for collection of pure submandibular saliva in large volumes. J Dent Res (1968) 1.28

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. Clin Genet (1984) 1.27

Developing an evidence base for interdisciplinary learning: a systematic review. J Adv Nurs (2001) 1.26

Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child (1987) 1.26

In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. Am J Med Genet (1984) 1.21

Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21

Cleft palate: a genetic and epidemiologic investigation. Clin Genet (1981) 1.20

The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet (1977) 1.18

A monoclonal blocking EIA for herpes simplex virus type 2 antibody: validation for seroepidemiological studies in Africa. J Virol Methods (2000) 1.17

Avoidance of smoking: the impact of warning labels in Brazil. Tob Control (2008) 1.15

On the classification of the acrocephalosyndactyly syndromes. Clin Genet (1977) 1.15

The axial mesodermal dysplasia spectrum. Pediatrics (1981) 1.14

Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet (1976) 1.14

Phenotypic and genetic analysis of the silver-Russell syndrome. Clin Genet (1978) 1.11

Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases. Am J Med Genet (1984) 1.11

Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser (1975) 1.09

Periodontosis: a phenotypic and genetic analysis. Oral Surg Oral Med Oral Pathol (1976) 1.07

Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child (1969) 1.07

Concerns about the genetics of pre-eclampsia. Am J Hum Genet (1993) 1.07

Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet (1999) 1.06

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet (2005) 1.06

Partial urorectal septum malformation sequence: a report of 25 cases. Am J Med Genet (2001) 1.04

Aarskog syndrome. New findings and genetic analysis. JAMA (1978) 1.04

Weaver syndrome: autosomal dominant inheritance of the disorder. Am J Med Genet (1998) 1.04

The combined employee health risk--occupational hazard appraisal: the New York City experience. J Public Health Policy (1988) 1.03

Failure of X inactivation in the autosomal segment of an X/A translocation. Am J Hum Genet (1980) 1.03

A mutation that causes lability of the androgen receptor under conditions that normally promote transformation to the DNA-binding state. J Clin Invest (1984) 1.02

Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet (2001) 1.02

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J Med Genet (2008) 1.01

Popliteal pterygium syndrome: a phenotypic and genetic analysis. J Med Genet (1978) 1.01

Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser (1975) 1.01

Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features. Radiology (1984) 1.01

Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team. Epidemiol Infect (2008) 0.99

South Carolina's suicide mortality in the 1970s. Public Health Rep (1982) 0.99

The discrimination of phenotypes for rate of disappearance of isonicotinoyl hydrazide from serum. J Clin Invest (1969) 0.98

Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet (1981) 0.98

Training, job demands and mental health of pre-registration house officers. Med Educ (2001) 0.98

Possible localization of a major gene for cleft lip and palate to 4q. Clin Genet (1994) 0.98

Dicentric chromosome 13 and centromere inactivation. Hum Genet (1983) 0.97

Facial clefts in Danish twins. Cleft Palate J (1979) 0.97

Genitourinary anomalies in the CHARGE association. J Urol (1999) 0.97

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome. Am J Dis Child (1981) 0.97

Facial clefting: an alternative biologic explanation for its complex etiology. Birth Defects Orig Artic Ser (1977) 0.96

Genetics and clefting. Cleft Palate J (1981) 0.95

Acrofacial dysostosis with severe facial clefting and limb reduction. Am J Med Genet (1984) 0.94

Differential intracranial pressure in patients with unilateral mass lesions. J Neurosurg (1982) 0.94

Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol (1983) 0.93

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. Am J Med Genet (1989) 0.93

Hypogonadism and CHARGE association. Am J Med Genet (2000) 0.93

Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature. Am J Med Genet (1997) 0.93

Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome? Birth Defects Orig Artic Ser (1976) 0.92

Electrophoresis in starch gel of human serum cholinesterase. Biochem Med (1970) 0.92

Current status of prostate cancer in North American black males. J Natl Med Assoc (1990) 0.91

Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. Am J Med Genet (1990) 0.91

Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum Genet (1982) 0.91

Human parotid proline-rich proteins: correlation of genetic polymorphisms to dental caries. Genet Epidemiol (1986) 0.90

Homicide in the elderly population in South Carolina, 1970-1979. J S C Med Assoc (1984) 0.89

Discrimination of phenotypes in human serum cholinesterase deficiency. Am J Hum Genet (1970) 0.89

Linkage studies in Van der Woude syndrome. J Med Genet (1978) 0.89

Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am J Med Genet (1983) 0.89

Radiographic appearance of the cervical vertebrae in normal and abnormal development. Br J Oral Surg (1982) 0.88

Femoral hypoplasia-unusual facies syndrome, from another viewpoint. Eur J Pediatr (1978) 0.88

Studies of cleft lip and cleft palate in the population of Denmark. Prog Clin Biol Res (1980) 0.88