Published in Clin Genet on January 01, 1976
Essential tremor. Can Med Assoc J (1981) 0.93
Treatment adherence and risk of death after a myocardial infarction. Lancet (1990) 3.60
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
Use of respiratory hydrogen (H2) excretion to detect carbohydrate malabsorption. J Lab Clin Med (1970) 2.65
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Resynthesizing evolutionary and developmental biology. Dev Biol (1996) 2.50
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
Intestinal absorption of trace quantities of chromium. J Lab Clin Med (1966) 1.99
Calcium and gastric secretion. Gastroenterology (1973) 1.98
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd (1974) 1.93
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
The Brachmann-de Lange syndrome. Am J Med Genet (1985) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
Glycoprotein synthesis and secretion by mucosal biopsies of rabbit colon and human rectum. J Clin Invest (1974) 1.75
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Studies on the pathogenesis of steatorrhea in the blind loop syndrome. J Clin Invest (1965) 1.66
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 1.50
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet (1994) 1.50
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet (1983) 1.44
Transition from symptomatic diffuse spasm to cardiospasm. Gut (1967) 1.44
The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr (1977) 1.43
Intrinsic factor-mediated attachment of vitamin B12 to brush borders and microvillous membranes of hamster intestine. J Clin Invest (1967) 1.43
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43
Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl (1986) 1.43
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. Am J Med Genet (1998) 1.40
A new complication of coronary arteriography. Cathet Cardiovasc Diagn (1990) 1.40
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Nifedipine and nocturia. Lancet (1986) 1.40
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Effect of cimetidine on intrinsic factor and pepsin secretion in man. Gastroenterology (1978) 1.36
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36
Ileal mucosa in familial selective vitamin B 12 malabsorption. N Engl J Med (1972) 1.31
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. Am J Med Genet (1982) 1.27
Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome. Hum Hered (1971) 1.27
Lethal forms of chondrodysplastic dwarfism. Pediatrics (1974) 1.26
The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Artic Ser (1975) 1.26
The Stickler syndrome. N Engl J Med (1972) 1.25
Benign familial chorea with onset in childhood. JAMA (1973) 1.24
A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
How physicians use cimetidine: a survey of hospitalized patients and published cases. N Engl J Med (1981) 1.23
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. Hum Hered (1973) 1.22
Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd (1973) 1.22
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
[The campomelic syndrome]. Presse Med (1971) 1.21
The trisomy 4p syndrome: case report and review. Am J Med Genet (1977) 1.20
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet (1996) 1.18
Effects of induced hypercalcemia on human gastric secretion. Gastroenterology (1967) 1.18
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet (1988) 1.18
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet (1995) 1.17
Acid secretion after calcium carbonate in patients with duodenal ulcer. N Engl J Med (1970) 1.17
Small bowel bacterial overgrowth. Adv Intern Med (1970) 1.17
Role of enteric microorganisms in malabsorption. Fed Proc (1967) 1.15
The Dubowitz syndrome. Z Kinderheilkd (1971) 1.14
Treatment of complicated prosthetic aortic valve endocarditis with annular abscess formation by homograft aortic root replacement. J Am Coll Cardiol (1991) 1.14
Multiple pterygium syndrome. Am J Med Genet (1980) 1.13
The pallister mosaic syndrome. Birth Defects Orig Artic Ser (1977) 1.12
Heterogeneity of Chondrodysplasia punctata. Humangenetik (1971) 1.12
Errors of morphogenesis and developmental field theory. Am J Med Genet (1998) 1.12
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome. Eur J Pediatr (1976) 1.12
The MIller-Dieker syndrome. Pediatrics (1980) 1.11
Role of calcium in gastric hypersecretion, parathyroid adenoma and peptic ulcer. N Engl J Med (1967) 1.11
Neurologic and psychometric findings in the Brachmann-De Lange syndrome. Neuropadiatrie (1971) 1.10
Organ culture of rabbit small intestine: prolonged in vitro steady state protein synthesis and secretion and secretory IgA secretion. Gastroenterology (1972) 1.10
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet (1979) 1.10
The benign proximal spinal progressive muscular atrophies. Acta Neurol Scand (1968) 1.09
Naming and nomenclature of syndromes. Birth Defects Orig Artic Ser (1974) 1.09
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet (1987) 1.09
Congenital intracranial neoplasms. Childs Nerv Syst (1986) 1.08
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet (1985) 1.08
Effects of aging on visual evoked responses. Arch Neurol (1977) 1.07
Familial Kallmann syndrome with unilateral renal aplasia. Clin Genet (1975) 1.06
X-linked aqueductal stenosis: clinical and neuropathological findings in two families. Pediatrics (1973) 1.06
Arthur G. Steinberg: an appreciation. Am J Med Genet (1995) 1.06
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet (1998) 1.06
[Observations on the problem of sex-linked recessive mental retardation]. Arch Psychiatr Nervenkr (1970) (1969) 1.06
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? Lancet (1971) 1.06
Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet (1999) 1.06
Initial experience with a physiological, rate responsive pacemaker. Br Med J (Clin Res Ed) (1983) 1.05
Antibodies to intestinal microvillous membranes. I. Characterization and morphologic localization. J Exp Med (1968) 1.04
Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome. Lancet (1974) 1.04
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet (1996) 1.03