Disease: Summitt syndrome
- 3. Selected syndromes associated with abnormalities of the sex chromosomes
- A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls
- Abnormalities of the autosomes and their resultant syndromes
- Accelerated skeletal maturation in infancy syndrome: report of a third case
- Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes
- Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation
- An etiologic and nosologic overview of craniosynostosis syndromes
- Annual review of selected dental literature: Report of the Committee on Scientific Investigation of the American Academy of Restorative Dentistry
- Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases
- Autosomal abnormalities: a review
- Autosomal syndromes
- Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea
- Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes
- Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor
- De-novo G-G-translocation Down's syndrome in two siblings
- Delineation of Robertsonian translocations in man by means of chromosome banding
- Differential diagnosis of genital ambiguity in the newborn
- Diploid-triploid mosaicism: delineation of the syndrome
- Direct-placement gallium restorative alloy: a 3-year clinical evaluation
- Duplication 6q syndrome
- Effects of resting vagal tone on accessory atrioventricular connections
- Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21
- Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?
- Features of Turner's syndrome in women with polycystic ovaries
- Fluid resuscitation mediates the association between inhalational burn injury and acute kidney injury in the major burn population
- Genetic forms of hypogonadism in the male
- Genetically determined sex-reversal in 46,XY humans
- Hyperthecosis: an inheritable form of polycystic ovarian disease
- Hypothyroidism in children with the Down syndrome: report of three cases
- Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes
- II. A review of clinical syndromes associated with aberrations of the autosomes
- Improved Prognosis and Increased Tumor-Infiltrating Lymphocytes in Patients Who Have SCLC With Neurologic Paraneoplastic Syndromes
- Leprechaunism (Donohue's syndrome): a case report
- Letter: Incomplete male pseudohermaphroditism
- Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case
- Neurologic manifestations of the Noonan syndrome
- Noonan's syndrome and Ebstein's malformation of the tricuspid valve
- Ocular manifestations of the Rubinstein-Taybi syndrome. Case report and review of the literature
- Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome
- Phenotypic heterogeneity in the Noonan syndrome
- Plasmin drives burn-induced systemic inflammatory response syndrome
- Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter's syndrome in siblings of a family with familial hirsutism
- Pseudovaginal perineoscrotal hypospadias
- Renal disease in the Russell-Silver syndrome
- Reproduction in a woman with mosaicism
- Russell dwarf versus Silver syndrome
- Smith-Lemli-Opitz syndrome in a negro child
- The Dubowitz syndrome
- The role of the cytogeneticist in the team approach to primary amenorrhea
- The Russell-Silver syndrome without asymmetry
- The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family
- The Summitt syndrome: observations on a third case
- The use of porcine xenografts in patients with toxic epidermal necrolysis
- Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation
- Turner syndrome and Noonan's syndrome
- Turner syndrome and Noonan's syndrome
- TURNER SYNDROME DUE TO PRESUMPTIVE X-ISOCHROMOSOME; REPORT OF A CASE
- X-autosome translocations: a review