Published in Am J Hum Genet on May 01, 1967
The genetics of cleft lip and cleft palate. Am J Hum Genet (1970) 2.94
Monogenic disorders. J Med Genet (1977) 1.94
An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives. J Med Genet (1982) 1.41
The Van der Woude syndrome (dominantly inherited lip pits and clefts). J Med Genet (1986) 1.40
Lip pits and congenital absence of second premolars: varied expression of the Lip Pits syndrome. J Med Genet (1973) 1.02
Genetic background of supernumerary teeth. Eur J Dent (2015) 0.95
Linkage studies in Van der Woude syndrome. J Med Genet (1978) 0.89
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. Am J Hum Genet (1999) 0.87
Van der woude syndrome: report of a case. Ghana Med J (2005) 0.86
Toward an orofacial gene regulatory network. Dev Dyn (2015) 0.85
Monozygotic twins with variable expression of Van der Woude syndrome. Am J Med Genet A (2011) 0.83
Linkage studies in a pedigree with Van der Woude syndrome. J Med Genet (1987) 0.79
Van der woude syndrome associated with hypodontia: a rare clinical entity. Case Rep Dent (2012) 0.75
Congenital midline sinus of the upper lip. Singapore Med J (2015) 0.75
The syndrome of pit of the lower lip and its association with cleft palate. Contemp Clin Dent (2014) 0.75
A case of vander woude syndrome with rare phenotypic expressions. J Clin Diagn Res (2014) 0.75
Isolated lower lip pits. Natl J Maxillofac Surg (2015) 0.75
Re-visiting the embryogenesis of the human lower lip: an overlooked paradigm. Front Physiol (2012) 0.75
Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet (1954) 3.38
Orodigitofacial dysostosis--a new syndrome. A study of 22 cases. J Pediatr (1962) 1.45
Congenital sinuses of the lower lip. Oral Surg Oral Med Oral Pathol (1961) 1.27
Congenital fistulas of the lower lip; report of five cases with special reference to the etiology. Oral Surg Oral Med Oral Pathol (1951) 1.13
Oral and genetic studies of Chileans, 1960. I. Oral anomalies. Am J Phys Anthropol (1963) 1.01
[Twins in a family with lower lip malformation]. Acta Genet Stat Med (1962) 1.00
Congenital lip sinuses. Plast Reconstr Surg (1946) (1956) 0.97
A FAMILY WITH BILATERAL CONGENITAL PITS OF THE INFERIOR LIP. Oral Surg Oral Med Oral Pathol (1964) 0.92
Congenital fistulas of the lower lip. A family case report. Oral Surg Oral Med Oral Pathol (1966) 0.91
Pits of the lip commissures in Caucasoid males. Oral Surg Oral Med Oral Pathol (1966) 0.89
[Heredity of fistulas of the lower lip and their relation to cleft lip and palate]. Cesk Pediatr (1966) 0.89
[Double fistula of the lower lip in 8 members of the same family]. Acta Genet Med Gemellol (Roma) (1963) 0.89
Congenital pits on the vermilion portion of the lower lip: report of case. J Am Dent Assoc (1952) 0.89
[On fistulae of the lips including the corner of the mouth]. Dermatol Wochenschr (1959) 0.88
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet (1998) 4.72
Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) (1987) 4.60
Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet (1997) 4.39
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Multiple lentigenes syndrome. Am J Dis Child (1969) 3.39
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet (1999) 3.22
Association of mammographically defined percent breast density with epidemiologic risk factors for breast cancer (United States). Cancer Causes Control (2000) 2.85
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
Risk of recurrent seizures after two unprovoked seizures. N Engl J Med (1998) 2.74
Oxidative damage in Alzheimer's. Nature (1996) 2.55
Calcifying odontogenic cyst. Range, variations and neoplastic potential. Acta Odontol Scand (1981) 2.45
Solitary maxillary central incisor and short stature. J Pediatr (1977) 2.41
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
Seizure recurrence after a first unprovoked seizure. N Engl J Med (1982) 2.23
Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst (1997) 2.21
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet (1996) 2.11
Urofacial (ochoa) syndrome. Am J Med Genet (1987) 2.03
Melanotic neuroectodermal tumor of infancy--a neoplasm of neural crese origin. Report of a case associated with high urinary excretion of vanilmandelic acid. Cancer (1966) 1.98
Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med (1980) 1.95
Linkage analysis between the major histocompatibility system and insulin-dependent diabetes in families with patients in two consecutive generations. J Clin Invest (1980) 1.90
Classification and birth prevalence of orofacial clefts. Am J Med Genet (1998) 1.83
Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett (1992) 1.82
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet (2001) 1.81
Multiple hamartoma syndrome (Cowden's disease). Arch Dermatol (1972) 1.79
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Am J Med Genet (1984) 1.77
Seizure recurrence after a 1st unprovoked seizure: an extended follow-up. Neurology (1990) 1.76
Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child (1970) 1.76
The Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser (1975) 1.72
Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions. Arch Gen Psychiatry (1981) 1.67
Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet (1990) 1.66
Pseudo-trisomy 13 syndrome. Am J Med Genet (1991) 1.65
Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet (1991) 1.63
Frontonasal dysplasia. J Pediatr (1970) 1.62
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics (1968) 1.62
Coliphages as ecological indicators of enteroviruses in various water systems. Bull World Health Organ (1981) 1.55
Seizures and myoclonus in patients with Alzheimer's disease. Neurology (1986) 1.53
Leukoplakia, lichen planus, and other oral keratoses in 23,616 white Americans over the age of 35 years. Oral Surg Oral Med Oral Pathol (1986) 1.47
Patterns of DNA replication of human chromosomes. II. Replication map and replication model. Am J Hum Genet (1982) 1.45
Double dens invaginatus of molarized maxillary central incisors, premolarization of maxillary lateral incisors, multituberculism of the mandibular incisors, canines and first premolar, and sensorineural hearing loss. Clin Dysmorphol (1992) 1.43
Pycnodysostosis. Clinical and genetic considerations. Am J Dis Child (1968) 1.43
Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid--a syndrome. Cancer (1968) 1.41
Familial occurrence of mesiodens. Oral Surg Oral Med Oral Pathol (1969) 1.41
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature (1989) 1.40
Analysis of linkage between the major histocompatibility system and juvenile, insulin-dependent diabetes in multiplex families. Reanalysis of data. J Clin Invest (1978) 1.38
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. Z Kinderheilkd (1970) 1.38
Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser (1975) 1.35
Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology (1997) 1.35
Diagnosis of craniofacial anomalies: subjective evaluation--Gestalt. Birth Defects Orig Artic Ser (1980) 1.35
A two-hit model for developmental defects in Gorlin syndrome. Nat Genet (1996) 1.35
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. Am J Med Genet (1984) 1.32
Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. Am J Dis Child (1969) 1.31
Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatr Res (1976) 1.31
Adams-Oliver syndrome revisited. Am J Med Genet (1991) 1.30
Cutis laxa. A manifestation of generalized elastolysis. Arch Dermatol (1965) 1.28
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am J Dis Child (1967) 1.28
Cytochemical demonstration of oxidative damage in Alzheimer disease by immunochemical enhancement of the carbonyl reaction with 2,4-dinitrophenylhydrazine. J Histochem Cytochem (1998) 1.27
Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics (1981) 1.27
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet (1998) 1.26
Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol (1966) 1.26
The Leopard (multiple lentigines) syndrome revisited. Birth Defects Orig Artic Ser (1971) 1.25
Assay of low deuterium enrichment of water by isotopic exchange with [U-13C3]acetone and gas chromatography-mass spectrometry. Anal Biochem (1998) 1.24
Short arm deletion of chromosome 18 in cebocephaly. Am J Dis Child (1968) 1.23
Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology (1984) 1.22
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
Epidemiology and the genetics of epilepsy. Res Publ Assoc Res Nerv Ment Dis (1983) 1.19
Down syndrome due to partial trisomy 21q. Clin Genet (1977) 1.18
Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser (1971) 1.17
Identification of the sites of hydroxyl radical reaction with peptides by hydrogen/deuterium exchange: prevalence of reactions with the side chains. Biochemistry (2000) 1.15
Ameloblastoma: Delineation of early histopathologic features of neoplasia. Cancer (1970) 1.14
Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology (1993) 1.13
Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med (1999) 1.13
Parkinson's disease. A genetic study. Brain (1973) 1.13
Achondroplasia. Am J Roentgenol Radium Ther Nucl Med (1967) 1.12
The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology (1982) 1.11
The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr (1980) 1.11
The Dubowitz syndrome: a retrospective. J Craniofac Genet Dev Biol Suppl (1985) 1.10
Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child (1969) 1.10
Cell line derived from a metastasis of a human testicular germ cell tumor. Cancer Res (1980) 1.10
Hypohaptoglobinemia associated with familial epilepsy. J Exp Med (1985) 1.10
Single central incisor in familial holoprosencephaly. J Pediatr (1984) 1.09
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. J Bone Joint Surg Am (1970) 1.08
Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations. Oral Surg Oral Med Oral Pathol (1988) 1.07
The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects Orig Artic Ser (1971) 1.07
Whistling face syndrome with normal hands. Am J Med Genet (2000) 1.07
Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child (1969) 1.07
Seckel's dwarfism: analysis of chromosome breakage and sister chromatid exchanges. Am J Dis Child (1979) 1.07
Facial clefting and its syndromes. Birth Defects Orig Artic Ser (1971) 1.06
Complex segregation analysis of febrile convulsions. Am J Hum Genet (1987) 1.06