scholarly article | Q13442814 |
P50 | author | David Rimoin | Q1176331 |
P2093 | author name string | D. L. Rimoin | |
D. O. Sillence | |||
W. A. Horton | |||
P2860 | cites work | Metaphyseal chondrodysplasia of Jansen | Q78700227 |
Substituted naphthol AS phosphate derivatives for the localization of leukocyte alkaline phosphatase activity | Q79330790 | ||
Familial bone disease resembling rickets (hereditary metaphysial dysostosis) | Q79424772 | ||
Diastrophic dwarfism | Q79648331 | ||
Diastrophic dwarfism | Q79686032 | ||
Camptomelic dwarfism | Q93700806 | ||
Camptomelic dwarfism | Q93721260 | ||
[Metatrophic dwarfism] | Q93758745 | ||
[Thanatophoric dwarfism (an anatomoclinical case)] | Q93788438 | ||
Metaphyseal Dysostosis and the Associated Syndrome of Pancreatic Insufficiency and Blood Disorders | Q93791674 | ||
Endochondral ossification in achondroplastic dwarfism | Q93807209 | ||
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? | Q24514927 | ||
A low-viscosity epoxy resin embedding medium for electron microscopy | Q26778471 | ||
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA | Q28201971 | ||
Polysyndactyly, short limbs, and genital malformations--a new syndrome? | Q28239859 | ||
Chondrodysplasia punctata and maternal warfarin use during pregnancy | Q28337826 | ||
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies | Q30501788 | ||
Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia | Q33472457 | ||
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. | Q33585515 | ||
THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION. | Q33971711 | ||
An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies | Q34065004 | ||
An unusual bone dysplasia: parastremmatic dwarfism | Q34225840 | ||
Asphyxiating thoracic dystrophy with familial characteristics | Q34238161 | ||
Congenital blepharophimosis associated with a unique generalized myopathy | Q34252527 | ||
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME | Q34258230 | ||
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY | Q34260208 | ||
Diastrophic nanism | Q34539724 | ||
A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES. | Q34540916 | ||
Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression | Q34634173 | ||
Congenital bowing of the long bones in two sisters | Q34696164 | ||
Fatal neonatal dwarfism | Q34701362 | ||
Short rib-polydactyly syndrome type 3. | Q34729543 | ||
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients | Q34985985 | ||
ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME | Q76794228 | ||
SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT | Q76832736 | ||
[Pathological anatomy of chondro-ectodermal dysplasia of Ellis van Creveld] | Q77091766 | ||
DIASTROPHIC DWARFISM IN EARLY INFANCY | Q77223884 | ||
DWARFISM IN THE AMISH | Q78291658 | ||
DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES | Q78550303 | ||
[Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias.] | Q78568813 | ||
[Case of congenital disease of dotted epiphyses] | Q78604668 | ||
Thymic aplasia with lymphopenia, plasma cells, and normal immunoglobulins. Relation to measles virus infection | Q45826007 | ||
The epiphyseal dysplasias | Q46157441 | ||
An investigation of ageing in human costal cartilage | Q46282500 | ||
Metaphyseal dysostosis and congenital pancreatic insufficiency | Q46287270 | ||
Achondroplasia--a genetic and statistical survey | Q46395631 | ||
Histochemical and ultrastructural demonstration of gamma-glutamyl transpeptidase activity | Q48986289 | ||
Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions. | Q50981647 | ||
Chondrodysplasia punctata-23 cases of a mild and relatively common variety | Q52111494 | ||
The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency | Q52308274 | ||
The Kniest syndrome | Q52313156 | ||
Kniest disease. | Q52319326 | ||
Spondylometaphyseal dysplasia (Brazilian type). | Q52319571 | ||
Fine structure of skeletal dysplasia as seen in pseudoachondroplastic spondyloepiphyseal dysplasia and asphyxiating thoracic dystrophy. | Q52319576 | ||
Ultrastructure of cartilage in chondrodystrophies. | Q52319578 | ||
Histologic studies in the chondrodystrophies. | Q52319580 | ||
Histopathology and ultrastructure of cartilage in the chondrodystrophies. | Q52319588 | ||
[Disease picture of congenital bowing of long bones] | Q52320080 | ||
Metaphyseal dysotosis: description of an ultrastructural defect in the epiphyseal plate chondrocytes. | Q52322201 | ||
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect. | Q52323469 | ||
The so-calle "Cloverleaf Skull Syndrome". A report of three cases with a discussion of its relationships with thanatophoric dwarfism and the craniostenoses. | Q53757028 | ||
Familial thanatophoric dwarfism. | Q53773619 | ||
Ultrastructure of benign peripheral nerve sheath tumors. | Q53782774 | ||
Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. | Q53794186 | ||
The Kniest syndrome. | Q53831726 | ||
[Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type] | Q53849115 | ||
The campomelic syndrome--comments. | Q53963813 | ||
Radiographic diagnosis of neonatal short-limbed dwarfism | Q54001289 | ||
A proposed classification for craniofacial malformations. | Q54104410 | ||
Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship | Q35149105 | ||
Dysplasia epiphysialis punctata; report of a case and review of literature. | Q35226569 | ||
Inheritance of multiple epiphyseal dysplasia, tarda | Q35231793 | ||
Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome). | Q35252364 | ||
Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis | Q35381818 | ||
Kniest syndrome with dominant inheritance and mucopolysacchariduria | Q35570932 | ||
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA | Q35905034 | ||
Congenital stippled epiphyses | Q36006970 | ||
MUCOPOLYSACCHARIDOSIS: PAPER ELECTROPHORETIC AND INFRA-RED ANALYSIS OF THE URINE IN GARGOYLISM AND MORQUIO-ULLRICH'S DISEASE. | Q36060156 | ||
METAPHYSIAL DYSOSTOSIS, TYPE SCHMID. | Q36060743 | ||
Diastrophic dwarfism | Q36062388 | ||
Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies | Q36077459 | ||
Science and Art in Preparing Tissues Embedded in Plastic for Light Microscopy, with Special Reference to Glycol Methacrylate, Glass Knives and Simple Stains | Q38585114 | ||
Gel Electrophoretic Studies on Proteoglycans and Collagen of Abnormal Human Growth Cartilage: Proteoglycan Abnormalities in Pseudoachondroplasia and in Kniest's Disease | Q39747795 | ||
Structure and function of the growth plate | Q39782245 | ||
Histochemical characterization of the endochondral growth plate: a new approach to the study of the chondrodystrophies | Q39871048 | ||
The genetics of short stature | Q39885773 | ||
Achondrogenesis: Case report and review of the literature | Q39957070 | ||
Pseudoachondroplastic dysplasia: five cases representing clinical, roentgenographic and histologic heterogeneity | Q39961339 | ||
Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias | Q39984140 | ||
Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis | Q40026971 | ||
A Case of Short Rib Polydactyly | Q40142038 | ||
Neonatal dwarfism | Q40276597 | ||
The chondrodystrophies | Q40685578 | ||
Spondyloepiphyseal dysplasias | Q40717254 | ||
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils | Q41366538 | ||
Metaphyseal and spondylometaphyseal chondrodysplasias | Q41522744 | ||
Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types | Q41635541 | ||
Heterogeneity in the campomelic syndromes. Long-and short-bone varieties | Q41714151 | ||
A radiographic study of the human fetal spine. 2. The sequence of development of ossification centres in the vertebral column | Q41869842 | ||
Pathology of chondrodysplasia punctata rhizomelic type | Q41937723 | ||
Congenital absence of the fibula and craniosynostosis in sibs | Q42429840 | ||
The phenotypic variability of diastrophic dysplasia | Q43502818 | ||
A lethal form of diastrophic dwarfism | Q43888117 | ||
Cloverleaf skull and micromelic dwarfism (author's transl) | Q44007510 | ||
Neonatal death dwarfism | Q44015080 | ||
A rare lethal bone dysplasia with recessive autosomic transmission | Q44020672 | ||
Mesomelic skeletal dysplasias | Q44058664 | ||
Reversal of protein blocking of basophilia in salt solutions: implications in the localization of polyanions using alcian blue | Q44144103 | ||
Lethal short-limbed chondrodysplasia in early infancy | Q44268705 | ||
Achondrogenesis in two sibs | Q44315046 | ||
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. | Q44357128 | ||
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan | Q44508587 | ||
Unusual bone changes in thymic alymphoplasia | Q44661463 | ||
Genetic study of thanatophoric dwarfism | Q44854062 | ||
New case of thanatophoric dwarfism associated with cloverleaf skull | Q44948220 | ||
Chondro-osseous pathology in the chondrodystrophies. | Q45193678 | ||
Morphologic observations on four cases of SED congenita. | Q54231240 | ||
Stickler syndrome in a pedigree of Pierre Robin syndrome. | Q54249554 | ||
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. | Q54415684 | ||
Glycol methacrylate in light microscopy: a routine method for embedding and sectioning animal tissues. | Q54518538 | ||
Familial recurring thanatophoric dwarfism. A case report. | Q54587604 | ||
Autosomal recessive inheritance in camptomelic dwarfism. | Q54663690 | ||
DIASTROPHIC DWARFISM | Q57752634 | ||
Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies | Q59461759 | ||
SIMULTANEOUS DIFFERENTIAL STAINING BY A CATIONIC CARBOCYANINE DYE OF NUCLEIC ACIDS, PROTEINS AND CONJUGATED PROTEINS II. CARBOHYDRATE AND SULFATED CARBOHYDRATE-CONTAINING PROTEINS | Q60363246 | ||
Hyaline cartilage changes in diastrophic dwarfism | Q66840785 | ||
Chondrodysplasis punctata: is maternal warfarin therapy a factor? | Q66918105 | ||
Saldino-Noonan short rib-polydactyly dwarfism syndrome; | Q66961398 | ||
[Acromesomelic dwarfism] | Q67235474 | ||
The Dyggve-Melchior-Clausen syndrome | Q67262087 | ||
A variant of campomelia | Q67348959 | ||
Pseudoachondroplasia | Q67348966 | ||
Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases | Q67359343 | ||
The Dyggve-Melchior-Clausen syndrome | Q67506797 | ||
Difficulties in the classification of the epiphyseal dysplasias | Q67513883 | ||
The lethal chondrodysplasias | Q67769458 | ||
Diastrophic dwarfism | Q67769478 | ||
Metaphysial dysostosis (Jansen type). Report of a case with long follow-up | Q67783499 | ||
Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease | Q67830141 | ||
Heterogeneity in the campomelic syndromes: long and short bone varieties | Q67830159 | ||
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one | Q68406499 | ||
Spondyloepiphyseal dysplasia tarda. A case report | Q68427451 | ||
[Classification of osseous dysplasia] | Q68452657 | ||
[Abnormalities of proteoglycans in growth cartilage in pseudo-achondroplasia] | Q68532762 | ||
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia | Q68636805 | ||
The ultrastructure of the epiphyseal plate. II. The hypertrophic chondrocyte | Q68645177 | ||
Pseudoachondroplastic dwarfism. A rough-surfaced endoplasmic reticulum storage disorder | Q68660539 | ||
Two types of heritable lethal achondrogenesis | Q68816525 | ||
The VSR syndrome. Studies of malformation syndromes of man XXXII | Q68817954 | ||
Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings | Q68898771 | ||
Parastremmatic dwarfism | Q68898792 | ||
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia) | Q68907267 | ||
The renal disease of thoracic asphyxiant dystrophy | Q68922640 | ||
Pseudo-achondrogenesis with fractures | Q69234123 | ||
The Stickler syndrome | Q69371515 | ||
[A new mesomelic type of dwarfism] | Q69401351 | ||
Difficulties in Differentiation between Chondroectodermal Dysplasia (Ellis–van Creveld syndrome) and Asphyxiating Thoracic Dystrophy | Q69430661 | ||
Thanatophoric Dwarfism and Cloverleaf Skull (“Kleeblattschädel”) | Q69473513 | ||
??? | Q94257905 | ||
Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases | Q69578169 | ||
Familial camptomelic dwarfism | Q69590885 | ||
[Association of a clover-leaf skull associated with thanaphoric nanism (1st case in Italian literature)] | Q69673275 | ||
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias | Q69759826 | ||
The campomelic syndrome. Congenital bowing of limbs and other skeletal and extraskeletal anomalies | Q69765267 | ||
The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions | Q69768869 | ||
Ocular involvement in chondrodysplasia punctata | Q69778722 | ||
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia | Q69868273 | ||
Letter: Thanatophoric dwarfism in triplets | Q70022691 | ||
The effect of proteolytic enzymes and hyaluronidase on the intracellular beta- and gamma-metachromatic granules and the matrix of rat epiphyseal cartilage | Q70028772 | ||
Histochemical studies on tibial growing cartilage in polyepiphysial dysplasia (Feirbank disease, Müller-Ribbing-Krankheit) | Q70061108 | ||
Schwartz syndrome: Myotonia with blepharophimosis and limitation of joints | Q70415509 | ||
The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities | Q70500665 | ||
Statural deficiency with micromesomelia. Report of 2 familial cases | Q70579750 | ||
An unusual cerebral malformation associated with thanatophoric dwarfism | Q70691168 | ||
Achondroplasia and thanatophoric dwarfism in the newborn | Q70727480 | ||
Metaphyseal Dysostosis of Jansen | Q71235057 | ||
Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle | Q71273184 | ||
Spondyloepiphyseal Dysplasia Congenita | Q71414178 | ||
Metatropic dwarfism | Q71475050 | ||
[International nomenclature of constitutional diseases of bones] | Q71518570 | ||
The tibial growing cartilage biopsy in the study of growth disturbances | Q71567029 | ||
Skeletal growth in achondroplasia | Q71591513 | ||
Cloverleaf Skull and Thanatophoric Dwarfism | Q71639078 | ||
Abnormality of the Hair in Cartilage-Hair Hypoplasia | Q71733605 | ||
Heterogeneity of Chondrodysplasia punctata | Q71760211 | ||
[The campomelic syndrome] | Q71786081 | ||
Hypochondroplasia | Q71807896 | ||
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism | Q71854817 | ||
The Thoracic Asphyxiant Dystrophy and Renal Disease | Q72079588 | ||
Achondroplasia | Q72217678 | ||
Hereditary dysplasia epiphysealis multiplex | Q72230899 | ||
[Diastrophic dwarfism] | Q72305069 | ||
Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible Type | Q72312350 | ||
[Thanatophoric dwarfism] | Q72350913 | ||
Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome | Q72360043 | ||
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia | Q72477405 | ||
Spondyloepiphysial dysplasia tarda. Four cases in childhood and adolescence, and some considerations regarding platyspondyly | Q72550821 | ||
Dyschondrosteosis. The most common cause of Madelung's deformity | Q72759403 | ||
Asphyxiating thoracic dystrophy of the newborn | Q72815728 | ||
Tricho-rhino-phalangeal syndrome | Q72969513 | ||
[Differential diagnosis between dysostosis enchondralis and chondrodystrophy] | Q74028073 | ||
Dysplasia epiphysialis multiplex in three sisters | Q74050086 | ||
Dysplasia epiphysialis punctata; report of a case with discussion | Q74528104 | ||
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases | Q74793679 | ||
Chondrodystrophia calcificans congenita; case report with autopsy findings | Q75539635 | ||
Congenital stippled epiphyses | Q75836219 | ||
Multiple epiphysial dysplasia: a report of four cases | Q76153543 | ||
METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME? | Q76690956 | ||
METAPHYSEAL DYSOSTOSIS. REPORT OF FIVE FAMILIAL AND TWO SPORADIC CASES OF A MILD TYPE | Q76732787 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 813-870 | |
P577 | publication date | 1979-09-01 | |
P1433 | published in | The American Journal of Pathology | Q4744259 |
P1476 | title | Morphologic studies in the skeletal dysplasias | |
P478 | volume | 96 |
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