Published in Am J Dis Child on October 01, 1968
Noonan syndrome. J Med Genet (1987) 3.70
Clues in diagnosing congenital heart disease. West J Med (1992) 1.53
Cerebral arteriovenous malformation in Noonan's syndrome. Postgrad Med J (1992) 1.00
Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet (1995) 0.90
Neurogenesis in the adult rat: electron microscopic analysis of light radioautographs. Science (1977) 4.34
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
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
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
Mitotic neuroblasts in the 9-day-old and 11-month-old rodent hippocampus. J Neurosci (1984) 1.78
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
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Suicide among African American men. Suicide Life Threat Behav (2001) 1.59
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
The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr (1977) 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
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36
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
A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
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
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
The Dubowitz syndrome. Z Kinderheilkd (1971) 1.14
Multiple pterygium syndrome. Am J Med Genet (1980) 1.13
Neurogenesis in the 3-month-old rat visual cortex. J Comp Neurol (1981) 1.13
The pallister mosaic syndrome. Birth Defects Orig Artic Ser (1977) 1.12
Heterogeneity of Chondrodysplasia punctata. Humangenetik (1971) 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
Errors of morphogenesis and developmental field theory. Am J Med Genet (1998) 1.12
The MIller-Dieker syndrome. Pediatrics (1980) 1.11
Neurologic and psychometric findings in the Brachmann-De Lange syndrome. Neuropadiatrie (1971) 1.10
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet (1979) 1.10
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet (1987) 1.09
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
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet (1985) 1.08
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
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
Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome. Lancet (1974) 1.04
"Unstable premutation" in achondroplasia: penetrance vs phenotrance. Am J Med Genet (1984) 1.03
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
A partial trisomy 5p syndrome. Birth Defects Orig Artic Ser (1975) 1.03
Population dynamics of adult-formed granule neurons of the rat olfactory bulb. J Comp Neurol (1985) 1.03
Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome. Am J Med Genet (2000) 1.03
On the gates of hell and a most unusual gene. Am J Med Genet (1986) 1.02
Two peculiar types of enchondromatosis. Pediatr Radiol (1978) 1.02
Gliogenesis of astrocytes and oligodendrocytes in the neocortical grey and white matter of the adult rat: electron microscopic analysis of light radioautographs. J Comp Neurol (1980) 1.01
The pathologic anatomy of the G-syndrome. Z Kinderheilkd (1972) 1.01
GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. Am J Med Genet (1990) 1.00
Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome? Am J Med Genet (2001) 1.00
The pathology of some malformations and hereditary diseases of the respiratory tract. Birth Defects Orig Artic Ser (1976) 0.99
Comparison of "PTFE" and bovine grafts for blood access in dialysis patients. Trans Am Soc Artif Intern Organs (1976) 0.99
The developmental field concept. Am J Med Genet (1985) 0.99
Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development. Birth Defects Orig Artic Ser (1976) 0.98
On congenital lymphedema. Am J Med Genet (1986) 0.98
Eye findings in the 13 trisomy syndrome. Eur J Pediatr (1977) 0.97
The XY gonadal agenesis syndrome. J Med Genet (1973) 0.97
Life of Alexander G. Gurwitsch and his relevant contribution to the theory of morphogenetic fields. Int J Dev Biol (1997) 0.96
Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. Z Kinderheilkd (1975) 0.96
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilkd (1973) 0.96
Pseudovaginal perineoscrotal hypospadias. Clin Genet (1972) 0.96
A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. J Pediatr (1965) 0.95
The growing use of firearms by suicidal older women, 1979-1992: a research note. Suicide Life Threat Behav (1996) 0.95
Geleophysic dysplasia. Am J Med Genet (1984) 0.95
Neuronal proliferation in the 9-month-old rodent-radioautographic study of granule cells in the hippocampus. Exp Brain Res (1983) 0.95
The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign. Lancet (1972) 0.94