Published in Lancet on July 10, 1971
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Chromosomal abnormalities in leiomyosarcomas. Am J Pathol (1993) 1.07
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. J Hum Genet (2014) 0.87
Geleophysic dysplasia associated with bilateral angle closure glaucoma. Indian J Ophthalmol (2013) 0.75
Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles. J Vet Intern Med (2017) 0.75
Chondrodysplasias and TGFβ signaling. Bonekey Rep (2015) 0.75
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
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
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 genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik (1970) 1.39
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med (1981) 1.38
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
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. Radiology (1969) 1.29
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
Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr (1984) 1.26
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
Campomelic dysplasia. Further elucidation of a distinct entity. Am J Dis Child (1980) 1.20
The trisomy 4p syndrome: case report and review. Am J Med Genet (1977) 1.20
Mycoplasma infection in the immunosuppressed leukemic patient. Arch Pathol Lab Med (1980) 1.19
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
Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr (1970) 1.15
The Dubowitz syndrome. Z Kinderheilkd (1971) 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
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
Total lymphatic irradiation and bone marrow in human heart transplantation. Ann Thorac Surg (1984) 1.11
Angiosarcoma of the spleen: a report of two cases and review of the literature. Arch Pathol Lab Med (1979) 1.10
Familial congenital bowing with short bones. Radiology (1979) 1.10
Neurologic and psychometric findings in the Brachmann-De Lange syndrome. Neuropadiatrie (1971) 1.10
Elevated fetal hemoglobin levels in sudden infant death syndrome. N Engl J Med (1987) 1.10
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet (1979) 1.10
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. Am J Med Genet (1984) 1.09
Spondyloepiphyseal dysplasia congenita. Radiology (1970) 1.09
The benign proximal spinal progressive muscular atrophies. Acta Neurol Scand (1968) 1.09
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet (1987) 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
Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. Am J Med Genet (1997) 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
Multiple primary melanoma following administration of levodopa. Arch Pathol (1972) 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
Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helv Paediatr Acta (1970) 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