Published in J Med Genet on September 01, 1968
Genetic tests under incomplete ascertainment. Am J Hum Genet (1959) 11.24
Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol (1962) 2.30
Epidermolysis bullosa hereditaria letalis in newborn twins; report of two cases with failure to respond favorably to cortisone. AMA Am J Dis Child (1954) 1.45
Epidermolysis bullosa in the newborn. Arch Dis Child (1955) 1.22
The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. Arch Neurol (1967) 1.18
Epidermolysis bullosa. Am J Dis Child (1949) 1.15
Epidermolysis bullosa hereditaria letalis: report of a case surviving for two and a half years. Arch Dis Child (1957) 1.06
Methodology in Human Genetics. Am J Hum Genet (1959) 0.97
[On the nosological classification of Herlitz's hereditary fatal epidermolysis bullosa (with a case report)]. Arch Klin Exp Dermatol (1963) 0.91
[Case of fatal epidermolysis bullosa hereditaria]. Lattante (1955) 0.91
Epidermolysis bullosa hereditaria lethalis; report of a case failing to respond to cortisone. J Pediatr (1955) 0.91
[ON THE CLASSIFICATION, HISTOGENETICS, BLOOD COAGULATION PHYSIOLOGY AND THERAPY OF HEREDITARY EPIDERMOLYSIS]. Arch Klin Exp Dermatol (1964) 0.90
Epidermolysis bullosa: a case report. Ohio Med (1954) 0.89
Epidermolysis bullosa letalis. Report of three cases with particular reference to the histopathology of the skin. Pediatrics (1960) 0.89
Epidermolysis bullosa lethalis. Great Ormond St J (1955) 0.87
[HEREDITARY DYSTROPHIC EPIDERMOLYSIS BULLOSA WITH ESOPHAGEAL CHANGES. A CRITICAL LITERATURE SURVEY WITH DESCRIPTION OF 2 CASES]. Arch Klin Exp Dermatol (1963) 0.87
[CONGESTION BY RECESSIVE DYSTROPHIC HEREDITARY EPIDERMOLYSIS BULLOSA IN AN EXTENSIVELY AFFECTED SIBSHIP]. Helv Paediatr Acta (1963) 0.86
Epidermolysis bullosa of the newborn. Can Med Assoc J (1956) 0.84
[ELECTRON MICROSCOPIC STUDIES ON THE ULTRASTRUCTURE OF EPIDERMOLYSIS BULLOSA LETALIS IN AN INFANT WITH FAMILIAL AND HEREDITARY TAINT]. Hautarzt (1964) 0.84
["Epidermolysis bullosa hereditaria lethalis" complicated by pulmonary thromboses (anatomo-pathological study of a case)]. Presse Med (1961) 0.82
Epidermolysis bullosa hereditaria letalis. Arch Dis Child (1961) 0.82
Y chromosome sequence variation and the history of human populations. Nat Genet (2000) 8.34
A double-blind controlled crossover trial of an antigen-avoidance diet in atopic eczema. Lancet (1978) 4.63
Pathology of cystic fibrosis review of the literature and comparison with 146 autopsied cases. Perspect Pediatr Pathol (1975) 3.03
Familial chronic muco-cutaneous candidiasis. J Med Genet (1972) 2.88
Immune abnormalities associated with chronic mucocutaneous candidiasis. Cell Immunol (1973) 2.81
The local nature of immunity in tuberculosis, illustrated histochemically in dermal BCG lesions. J Immunol (1968) 2.71
Paternal population history of East Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet (2001) 2.71
Unexplained bronchopulmonary disease with inflammatory bowel disease. Arch Intern Med (1976) 2.54
Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J (1966) 2.48
Woolly hair. Clinical and general aspects. Trans St Johns Hosp Dermatol Soc (1974) 2.30
Defective yeast opsonization and C2 deficiency in atopic patients. Clin Exp Immunol (1978) 2.14
Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol (1973) 2.01
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Br J Dermatol (1976) 1.88
Type II syndactyly. Am J Hum Genet (1968) 1.85
Signature whistle shape conveys identity information to bottlenose dolphins. Proc Natl Acad Sci U S A (2006) 1.81
Ocular manifestations of ichthyosis. Br J Ophthalmol (1968) 1.67
The Rieger syndrome. Am J Med Genet (1978) 1.61
Enzymatic basis of typical X-linked icthyosis. Lancet (1978) 1.60
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol (1967) 1.57
Chronic oral candidiasis (autosomal recessive inheritance) (three cases). Proc R Soc Med (1970) 1.56
Decreased lymphocyte responses in free-ranging bottlenose dolphins (Tursiops truncatus) are associated with increased concentrations of PCBs and DDT in peripheral blood. Environ Health Perspect (1995) 1.56
Electro-oculography in Best's macular dystrophy. Am J Ophthalmol (1974) 1.53
African origin of modern humans in East Asia: a tale of 12,000 Y chromosomes. Science (2001) 1.51
Observations in cystic fibrosis of the pancreas. 3. Pulmonary lesions. Johns Hopkins Med J (1968) 1.50
Ichthyosis. Br Med J (1966) 1.45
Intravascular haemolysis with experimentally produced vascular thrombi. Br J Haematol (1967) 1.45
Unique anomalies in cephalothoracopagus janiceps conjoined twins with implications for multiple mechanisms in the abnormal embryogenesis. Teratology (1990) 1.44
Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet (2005) 1.43
Congenital anomalies in Duane's retraction syndrome. Arch Ophthalmol (1972) 1.42
X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families. JAMA (1967) 1.42
Hepatic changes in young infants with cystic fibrosis: possible relation to focal biliary cirrhosis. J Pediatr (1975) 1.40
Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Genet (1966) 1.37
A deletion in the gene encoding the CD45 antigen in a patient with SCID. J Immunol (2001) 1.34
Ultrastructural changes in the alveolar epithelium in response to Freund's adjuvant. Am J Pathol (1971) 1.30
Regulation of melanoma by the embryonic skin. Proc Natl Acad Sci U S A (1986) 1.29
Universal dyschromatosis, small stature and high-tone deafness. Clin Exp Dermatol (1977) 1.28
Cystic fibrosis of the pancreas. Morphologic findings in infants with and without diagnostic pancreatic lesions. Arch Pathol (1973) 1.26
The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan's syndrome. Br J Dermatol (1984) 1.25
Pulmonary hypoplasia: a morphometric study of the lungs of infants with diaphragmatic hernia, anencephaly, and renal malformations. Pediatrics (1973) 1.25
Ectopia lentis et pupillae. Am J Ophthalmol (1979) 1.24
Tuberose sclerosis without adenoma sebaceum. J Ment Defic Res (1970) 1.21
Population studies and the Old Order Amish. Nature (1976) 1.21
Hereditary trichilemmal cysts. Hereditary pilar cysts. Clin Exp Dermatol (1977) 1.19
The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. Arch Neurol (1967) 1.18
Ocular complications in the Weill-Marchesani syndrome. Am J Ophthalmol (1974) 1.17
Specificity of the control of tumor formation by the blastocyst. Cancer Res (1982) 1.17
HLA in eczema and hay fever. Clin Exp Immunol (1977) 1.15
A new oculocerebral syndrome with hypopigmentation. J Pediatr (1967) 1.13
Pulmonary changes in sickle cell disease. Am Rev Respir Dis (1971) 1.12
EDS IV (acrogeria): new autosomal dominant and recessive types. J R Soc Med (1980) 1.12
Pulmonary alterations in systemic lupus erythematosus. Am Rev Respir Dis (1972) 1.12
Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol (1971) 1.11
The premature ageing syndromes. Report of eight cases and description of a new entity named metageria. Br J Dermatol (1974) 1.10
Epidermal diseases in bottlenose dolphins: impacts of natural and anthropogenic factors. Proc Biol Sci (1999) 1.10
Chronic muco-cutaneous candidiasis: new approaches to treatment. Br J Dermatol (1973) 1.09
A modified apparatus for fixing lungs to study the pathology of emphysema. Am Rev Respir Dis (1967) 1.08
Blood groups in two Amish demes. Humangenetik (1967) 1.08
Treatment of chronic mucocutaneous candidosis with ketoconazole: a study of 12 cases. Rev Infect Dis (1981) 1.08
Disseminated BCG in twin boys with presumed chronic granulomatous disease of childhood. Pediatrics (1971) 1.07
Familial nanophthalmos. Am J Ophthalmol (1976) 1.06
Transection of spinal cord. A rare obstetrical complication of cephalic delivery. Arch Dis Child (1971) 1.04
Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol (1982) 1.03
Alkaline-mediated differential interaction (AMDI): a simple automatable single-nucleotide polymorphism assay. Proc Natl Acad Sci U S A (2001) 1.03
Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. JAMA (1966) 1.02
A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol (1980) 1.02
Cervical mucus in cystic fibrosis: a possible cause of infertility. Am J Obstet Gynecol (1970) 1.01
Retinoblastoma in a patient with a 13qXp translocation. Am J Ophthalmol (1977) 1.00
A clinical and histopathological study of François-Neetens speckled corneal dystrophy. Am J Ophthalmol (1977) 0.99
Vascular lesions in infants with congenital rubella. Circulation (1967) 0.99
Thrombosis in the newborn: comparison between infants of diabetic and nondiabetic mothers. J Pediatr (1965) 0.98
Hereditary hypotrichosis (Marie Unna type). Trans St Johns Hosp Dermatol Soc (1971) 0.98
Pulmonary lesions associated with busulfan therapy of chronic myelogenous leukemia. Cancer (1971) 0.98
Cystic fibrosis of the pancreas: structural changes in peripheral airways. Thorax (1968) 0.96
Nonbacterial thrombotic vegetations. Occurrence in neonate, infant, and child, and relation to valvular lesions in cardiac defects. Am J Pathol (1968) 0.96
Experimental lung injury. I. Bacterial pneumonia: ultrastructural, autoradiographic and histochemical observations. Am J Pathol (1973) 0.95
Pseudogenes and DNA-based diet analyses: a cautionary tale from a relatively well sampled predator-prey system. Bull Entomol Res (2008) 0.95
Some aspects of cardiac pathology in infancy and childhood. IV. Myocardial and coronary lesions in cardiac malformations. Pediatrics (1967) 0.95
The neurula stage mouse embryo in control of neuroblastoma. Proc Natl Acad Sci U S A (1984) 0.95
Massive pulmonary hemorrhage in the newborn. I. Pathologic considerations. J Pediatr (1966) 0.95
Mucin histochemistry of human gallbladder: changes in adenocarcinoma, cystic fibrosis, and cholecystitis. J Natl Cancer Inst (1968) 0.95
Amish demography. Soc Biol (1970) 0.94
Bubbles in live-stranded dolphins. Proc Biol Sci (2011) 0.93
Myocardial lesions in patients with cystic fibrosis of the pancreas. Johns Hopkins Med J (1973) 0.93
The granular pneumonocyte. Absence of phagocytic activity. Am Rev Respir Dis (1970) 0.93
[Classification of chronic mucocutaneous candidiasis with observations on the clinical picture and its therapy]. Hautarzt (1974) 0.91
Surgical treatment of dislocated lenses in the Marfan syndrome and homocystinuria. Trans Am Acad Ophthalmol Otolaryngol (1973) 0.91
Alveolar macrophages in perinatal infants. Pediatrics (1984) 0.90
Metastatic cutaneous carcinoid. J Am Acad Dermatol (1985) 0.90
Lymphangiectasis and other pulmonary lesions in the asplenia syndrome. Arch Pathol (1970) 0.90
Medical mucoid lesions of the pulmonary artery in cystic fibrosis, pulmonary hypertension, and other disorders. Lab Invest (1974) 0.90
Pathological lesions due to congenital rubella. Arch Pathol (1969) 0.89
Hereditary multiple glomus tumours. Report of four families and a review of literature. Trans St Johns Hosp Dermatol Soc (1975) 0.89
Discriminant function analysis of phenotype variates in ichthyosis. Am J Hum Genet (1967) 0.89
Calcifying arthropathy of the hips and diffuse hyperostosis associated with etretinate. Clin Exp Dermatol (1987) 0.89
Penetrance and variability in anterior chamber malformations. Birth Defects Orig Artic Ser (1979) 0.88
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. Clin Exp Dermatol (1976) 0.88
Trophectoderm in control of murine embryonal carcinoma. Cancer Res (1984) 0.88
Prevalence and pathology of lungworm infection in bottlenose dolphins Tursiops truncatus from southwest Florida. Dis Aquat Organ (2009) 0.88
A major histocompatibility complex class I allele shared by two species of chimpanzee. Immunogenetics (1998) 0.87
Peptides bound endogenously by HLA-Cw*0304 expressed in LCL 721.221 cells include a peptide derived from HLA-E. Tissue Antigens (1996) 0.87