Published in Am J Dis Child on June 01, 1969
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
A clinical study of Noonan syndrome. Arch Dis Child (1992) 2.07
The heart in lentiginosis. Br Heart J (1972) 1.97
Leopard syndrome. Orphanet J Rare Dis (2008) 1.69
Clues in diagnosing congenital heart disease. West J Med (1992) 1.53
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet (1997) 1.21
The differential diagnosis of familial lentiginosis syndromes. Fam Cancer (2011) 1.12
The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis. J Med Genet (2005) 1.07
RASopathies: Clinical Diagnosis in the First Year of Life. Mol Syndromol (2011) 1.07
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. Hum Mol Genet (2008) 1.04
Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations. Dis Model Mech (2010) 1.04
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. BMC Med Genet (2014) 1.04
Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res (2009) 1.02
'Little leopard' syndrome. Description of 3 cases and review of 24. Arch Dis Child (1971) 1.01
Noonan syndrome and related disorders: alterations in growth and puberty. Rev Endocr Metab Disord (2006) 1.00
"Syndrome myxoma": a subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms. Br Heart J (1987) 1.00
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. Eur J Pediatr (2009) 0.93
Carney complex and lentiginosis. Pigment Cell Melanoma Res (2009) 0.93
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. Ann Dermatol (2011) 0.85
Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice. Dis Model Mech (2013) 0.83
LEOPARD Syndrome: Clinical Features and Gene Mutations. Mol Syndromol (2012) 0.82
A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome. Arch Dermatol (2007) 0.82
BRAF gene: From human cancers to developmental syndromes. Saudi J Biol Sci (2014) 0.81
New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. J Biol Chem (2013) 0.81
Generalized lentigines associated with multiple congenital defects (leopard syndrome). Can Med Assoc J (1970) 0.78
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. BMC Med Genet (2014) 0.77
Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin (2014) 0.77
Distinct and overlapping functions of ptpn11 genes in Zebrafish development. PLoS One (2014) 0.75
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. Clin Exp Otorhinolaryngol (2011) 0.75
Mitral valve prolapse and lentiginosis profusa. J Natl Med Assoc (1981) 0.75
Hypertrophic obstructive cardiomyopathy with LEOPARD (Moynihan's) syndrome: surgical treatment. J R Soc Med (1993) 0.75
Primary pulmonary hypertension in leopard syndrome. Br Heart J (1981) 0.75
LEOPARD syndrome with rare skeletal anomalies: A case report. Indian J Dermatol (2013) 0.75
Apical systolic click and murmur associated with neurofibromatosis. J Med Genet (1978) 0.75
Premature cataracts associated with generalized lentigo. Trans Am Ophthalmol Soc (1979) 0.75
Brown spots. Br Med J (1972) 0.75
The incidence of consanguineous matings in Japan, with remarks on the estimation of comparative gene frequencies and the expected rate of appearance of induced recessive mutations. Am J Hum Genet (1949) 5.72
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
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 germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
A habitable fluvio-lacustrine environment at Yellowknife Bay, Gale crater, Mars. Science (2013) 2.50
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
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. Am J Hum Genet (1967) 2.32
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
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
Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness". Circulation (1967) 1.96
Educational psychology. Annu Rev Psychol (1967) 1.83
Forage feeding to reduce preharvest Escherichia coli populations in cattle, a review. J Dairy Sci (2003) 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
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
Evaluation of bacterial diversity in the rumen and feces of cattle fed different levels of dried distillers grains plus solubles using bacterial tag-encoded FLX amplicon pyrosequencing. J Anim Sci (2010) 1.71
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
The current role of mediastinoscopy in the evaluation of thoracic disease. J Thorac Cardiovasc Surg (1999) 1.59
Modeling the biomechanics of the mandible: a three-dimensional finite element study. J Biomech (1992) 1.54
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
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
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
Catalytically important domains of rat carnitine palmitoyltransferase II as determined by site-directed mutagenesis and chemical modification. Evidence for a critical histidine residue. J Biol Chem (1994) 1.37
Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser (1975) 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
Toxicologic and acute lethal hazard evaluation of thermal decomposition products of synthetic and natural polymers. Toxicol Appl Pharmacol (1979) 1.34
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
Ecology. Adding biofuels to the invasive species fire? Science (2006) 1.29
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
Ionophores: their use as ruminant growth promotants and impact on food safety. Curr Issues Intest Microbiol (2003) 1.28
Anatomic variations in the tetralogy of Fallot. Am Heart J (1971) 1.28
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
Short arm deletion of chromosome 18 in cebocephaly. Am J Dis Child (1968) 1.23
Gastrointestinal microbial ecology and the safety of our food supply as related to Salmonella. J Anim Sci (2007) 1.22
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
Teaching students the art and science of physical diagnosis. Am J Med (2001) 1.18
Incidence and ecology of Campylobacter jejuni and coli in animals. Anaerobe (2008) 1.18
Down syndrome due to partial trisomy 21q. Clin Genet (1977) 1.18
Bovine carotid artery shunts in vascular access surgery. Complications in the chronic hemodialysis patient. Arch Surg (1974) 1.17
Isolated bulbar inversion in corrected transposition. Am J Cardiol (1966) 1.17
Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects Orig Artic Ser (1971) 1.17
Ameloblastoma: Delineation of early histopathologic features of neoplasia. Cancer (1970) 1.14
Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med (1999) 1.13
Achondroplasia. Am J Roentgenol Radium Ther Nucl Med (1967) 1.12
Evaluation of the bacterial diversity in cecal contents of laying hens fed various molting diets by using bacterial tag-encoded FLX amplicon pyrosequencing. Poult Sci (2009) 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
Toxicity, distribution, and excretion of cephaloridine in laboratory animals. Antimicrob Agents Chemother (Bethesda) (1965) 1.10
Variation in the faecal shedding of Salmonella and E. coli O157:H7 in lactating dairy cattle and examination of Salmonella genotypes using pulsed-field gel electrophoresis. Lett Appl Microbiol (2004) 1.09
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
Atrial flutter in infancy. J Pediatr (1969) 1.07
Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child (1969) 1.07
Whistling face syndrome with normal hands. Am J Med Genet (2000) 1.07
Facial clefting and its syndromes. Birth Defects Orig Artic Ser (1971) 1.06
Toxicologic classification of thermal decomposition products of synthetic and natural polymers. Toxicol Appl Pharmacol (1981) 1.06
Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. Am J Med Genet (1998) 1.05
Fecal prevalence and diversity of Salmonella species in lactating dairy cattle in four states. J Dairy Sci (2005) 1.05
The KBG syndrome, characteristic dental findings: a case report. Int J Paediatr Dent (2001) 1.04
The Prader-Willi syndrome. Am J Dis Child (1969) 1.04
Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance. J Pediatr (1983) 1.04
Ixodes scapularis Say on white-tailed deer (Odocoileus virginianus) from Long Point, Ontario. J Wildl Dis (1976) 1.03
Familial reciprocal C/18 translocation. Am J Hum Genet (1966) 1.03
Proteus syndrome. J Clin Dysmorphol (1984) 1.03
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. Z Kinderheilkd (1974) 1.02
Congenital mitral stenosis resulting from anomalous arcade and obstructing papillary muscles. Report of correction by use of ball valve prosthesis. Am J Cardiol (1969) 1.02
Antimicrobial susceptibility and factors affecting the shedding of E. coli O157:H7 and Salmonella in dairy cattle. Lett Appl Microbiol (2003) 1.02
Melanotic neuroectodermal tumor of infancy. A reexamination of a histogenetic problem based on immunohistochemical, flow cytometric, and ultrastructural study of 10 cases. Am J Surg Pathol (1991) 1.02
PTEN mutations and proteus syndrome. Lancet (2001) 1.01
Chemistry of rocks and soils at Meridiani Planum from the Alpha Particle X-ray Spectrometer. Science (2004) 1.01
Macronuclear gene-sized molecules of hypotrichs. Nucleic Acids Res (1995) 1.01
Psychological adjustment following work-related hand injury: 18-month follow-up. Ann Plast Surg (1992) 1.00
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. Arch Dermatol (1975) 0.99
The Beckwith-Wiedemann syndrome. Seven new cases. Am J Dis Child (1971) 0.99