Jürgen W. Spranger
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(Suggest an Edit or Addition)Jürgen W. Spranger's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Nosology and classification of genetic skeletal disorders: 2015 revision (2015) (488)
- Errors of morphogenesis: concepts and terms. Recommendations of an international working group. (1982) (328)
- Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia (2002) (290)
- 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. (1983) (277)
- Bone Dysplasias (2012) (200)
- Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (2002) (170)
- Bone dysplasias: An atlas of constitutional disorders of skeletal development (1974) (164)
- International system for human gene nomenclature (1979) ISGN (1979). (1979) (161)
- The type II collagenopathies: A spectrum of chondrodysplasias (1994) (156)
- Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect (1993) (155)
- I-cell disease: a clinical picture. (1971) (153)
- Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature (2000) (147)
- Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity (2011) (144)
- Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts. (1977) (140)
- Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation (1999) (137)
- Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. (2005) (136)
- International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone (1998) (125)
- The lethal osteochondrodysplasias. (1990) (123)
- THE STICKLER SYNDROME (1974) (122)
- Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. (1991) (104)
- [The campomelic syndrome]. (1971) (101)
- Spondyloepiphyseal dysplasia congenita. (1970) (101)
- The pallister mosaic syndrome. (1977) (99)
- Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. (1997) (96)
- The Stickler syndrome (hereditary arthroophthalmopathy). (1975) (92)
- Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (2011) (90)
- Heterogeneity of Chondrodysplasia punctata (2004) (88)
- Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). (1998) (85)
- Hypochondroplasia: clinical and radiological aspects in 39 cases. (1979) (84)
- Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (2014) (83)
- Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (2008) (81)
- Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. (1969) (81)
- Wormian bones in osteogenesis imperfecta and other disorders (1982) (80)
- The systemic mucopolysaccharidoses. (1972) (78)
- Osteogenesis imperfecta: A clinical study of the first ten years of life (2004) (78)
- Campomelic dysplasia. Further elucidation of a distinct entity. (1980) (77)
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. (2019) (77)
- Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W (2003) (74)
- Heterogeneity of Morquio disease (1986) (73)
- International classification of osteochondrodysplasias (1992) (72)
- Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations (2010) (72)
- Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia (1997) (71)
- Bone dysplasia 'families'. (1988) (70)
- TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. (2008) (70)
- Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features (2010) (69)
- MAINZ CONGENITAL BIRTH DEFECT MONITORING SYSTEM (1994) (69)
- Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase. (1974) (69)
- Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. (1999) (67)
- The type XI collagenopathies (1998) (65)
- A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. (2000) (63)
- The phenotypic variability of diastrophic dysplasia. (1978) (63)
- Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. (2009) (62)
- The genetic mucolipidoses. Diagnosis and differential diagnosis. (1970) (62)
- The genetic mucolipidoses (2004) (60)
- Recommendations of an International Working Group (1982) (58)
- Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). (1970) (56)
- Developmental terms—some proposals: First report of an International working group (1979) (53)
- I-cell disease. (2020) (51)
- Two peculiar types of enchondromatosis (1978) (51)
- Pattern recognition in bone dysplasias. (1985) (51)
- The clinical spectrum of a-L-iduronidase deficiency (1985) (49)
- Increasing frequency of a syndrome of multiple osseous defects? (1970) (49)
- Progressive pseudorheumatoid arthritis of childhood (PPAC) (1983) (47)
- Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies (1972) (47)
- Geleophysic dwarfism--a "focal" mucopolysaccharidosis? (1971) (46)
- A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. (1996) (46)
- Wolcott-Rallison syndrome: Diabetes mellitus and spondyloepiphyseal dysplasia (1982) (46)
- DYSPLASIA SPONDYLOEPIPHYSARIA CONGENITA (1966) (45)
- Missense mutation in the N‐acetylglucosamine‐1‐phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG (2006) (45)
- Congenital anomalies in children of epileptic mothers and fathers. (1980) (44)
- International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone. (1992) (44)
- Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. (1970) (42)
- Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. (2000) (42)
- International System for Human Gene Nomenclature (1979) ISGN (1979). (1980) (39)
- Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1 (2004) (39)
- Hypomorphic mutations of TRIP11 cause odontochondrodysplasia (2019) (38)
- Etiology and pathogenesis of the prune belly syndrome. (1981) (37)
- Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. (1983) (37)
- Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction (2001) (36)
- Metaphyseal chondrodysplasia, Schmid type Clinical and radiographic deliniation with a review of the literature (2006) (36)
- Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity (2016) (36)
- Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients. (1983) (36)
- Chondrodysplasia punctata, tibia-metacarpal (MT) type. (1990) (35)
- Further delineation of the 3-M syndrome with review of the literature. (1987) (35)
- Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. (1997) (34)
- Geleophysic dysplasia. (1984) (33)
- The epiphyseal dysplasias. (1976) (33)
- Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? (2016) (32)
- Clinical and ultrastructural findings in three patients with geleophysic dysplasia. (1996) (31)
- The radiographic features of mannosidosis. (1976) (31)
- Heterogeneity of metatropic dysplasia (1983) (30)
- Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia (2005) (30)
- Osteogenesis imperfecta: a pasture for splitters and lumpers. (1984) (29)
- Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology (1976) (29)
- Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia. (1980) (28)
- Enchondromatosis revisited: New classification with molecular basis (2012) (28)
- Familial congenital bowing with short bones. (1979) (28)
- Chondrodysplasia punctata — Rhizomelic form (1976) (28)
- Mucopolysaccharidosis VII: β-Glucuronidase deficiency (1974) (28)
- Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia (2007) (27)
- Hepatic ultrastructure in fucosidosis (1971) (27)
- Radiologic nosology of bone dysplasias. (1989) (26)
- [Vater or Vacterl syndrome (author's transl)]. (1976) (26)
- A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. (2015) (26)
- [Exomphalos-makroglossy-gigantism-syndrome, gneralized muscular hypertrophy, progressive lipodystrophy and Miescher's syndrome--congenital diencephalic syndromes?]. (1968) (26)
- Weyers acrodental dysostosis in a family (1984) (26)
- Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. (1994) (25)
- Omenn phenotype with short-limbed dwarfism. (1991) (25)
- BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. (2016) (25)
- Grebe Dysplasia And The Spectrum Of CDMP1 Mutations (2003) (24)
- Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia (2005) (24)
- Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan (1974) (23)
- A new familial intrauterine growth retardation syndrome the “3-M syndrome” (1976) (23)
- Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type (2015) (23)
- Clinical and radiographic delineation of odontochondrodysplasia (2008) (23)
- Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia (1999) (23)
- Heterogeneity of Dyggve-Melchior-Clausen dwarfism (1976) (22)
- Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. (1974) (22)
- An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. (1985) (21)
- Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp. (1998) (20)
- The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. (1996) (20)
- Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism (2001) (20)
- Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. (1989) (20)
- Fetal Radiology: A Diagnostic Atlas (2013) (19)
- Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis (2005) (19)
- Schimke immunoosseous dysplasia: defining skeletal features (2009) (19)
- Cryptophthalmos ‐ syndactyly syndrome without cryptophthalmos (1986) (19)
- Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies. (1987) (19)
- I-Cell disease, mucolipidosis II (1973) (19)
- Autosomal dominant inheritance of spondyloenchondrodysplasia (2005) (19)
- Spondyloenchondrodysplasia. (1989) (19)
- Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type (2003) (19)
- The Dyggve-Melchior-Clausen syndrome. (1975) (18)
- Pigmentary mosaicism in hypomelanosis of Ito (1998) (18)
- The spondylometaphyseal dysplasias. A tentative classification (2005) (18)
- N-Acetylneuraminic acid storage disease (2004) (18)
- The clinical spectrum of alpha-L-iduronidase deficiency. (1985) (18)
- [Dysosteosclerosis--a special form of generalized osteosclerosis]. (1968) (18)
- Recessive omodysplasia: five new cases and review of the literature (2004) (17)
- An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. (1996) (17)
- Hepatic ultrastructure in mucolipidosis I (lipomucopolysaccharidosis) (1971) (17)
- Congenital bowing of the long bones (1980) (17)
- [A new (brachymelic) type of primordial dwarfism (author's transl)]. (1976) (17)
- Stippled epiphyses in fetal alcohol syndrome (2005) (16)
- Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome? (2003) (16)
- Microcephalic osteodysplastic dysplasia. (1994) (16)
- Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? (1982) (16)
- An unusual bone dysplasia: parastremmatic dwarfism. (1970) (16)
- [Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type]. (1971) (15)
- Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation (1994) (15)
- Prenatal diagnosis of mucolipidosis II (I-cell disease) (1976) (15)
- Mannosidosis: clinical and biochemical findings. (1975) (15)
- Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. (1981) (15)
- Nosologic Grouping in Birth Defects (1987) (15)
- Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood (2015) (14)
- Inborn errors of complex carbohydrate metabolism. (1987) (14)
- Acrofacial dysplasia resembling geleophysic dysplasia. (1984) (14)
- The genetic mucolipidoses. (1970) (14)
- Lysosomal sialidase deficiency: increased ganglioside content in autopsy tissues of a sialidosis patient. (1987) (13)
- Pathology of chondrodysplasia punctata rhizomelic type. (1974) (13)
- Sponastrime dysplasia. A radiologic-pathologic correlation. (1989) (13)
- Heterogeneity of nonlethal severe short-limbed dwarfism. (1977) (13)
- News for the practitioner (1992) (12)
- Ischiospinal dysostosis with rib gaps and nephroblastomatosis. (2001) (12)
- Familial metaphyseal dysplasia? (1970) (12)
- Neurology of adult alpha-mannosidosis. (1996) (12)
- [Osteogenesis imperfecta in childhood and adolescence]. (1993) (12)
- Beta galactosidase and the Morquio syndrome. (1977) (12)
- CHONDROITINSULPHATURIA WITH α-L-IDURONIDASE DEFICIENCY (1974) (12)
- Morquio's disease type B (beta-galactosidase deficiency) in three siblings. (1987) (11)
- Heterozygous C‐propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant (2011) (11)
- Short rib-polydactyly syndromes and related conditions. (1974) (11)
- Morphological aspects of the Mucopolysaccharidoses (1975) (10)
- Dose‐response studies with benzo[a]pyrene (1960) (10)
- Metaphyseal chondrodysplasias. (1976) (10)
- Spondyloepiphyseal dysplasias. (1975) (9)
- PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype (2019) (9)
- The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. (2019) (9)
- Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency. (1978) (9)
- Acute leukemia following anticancer treatment (1975) (9)
- Lipomucopolysaccharidosis--a second look. (1969) (8)
- Osteogenesis imperfecta and hyperplastic callus formation: light- and electron-microscopic findings. (1993) (8)
- Mucopolysaccharidosis II (Hunter disease) with corneal opacities (1978) (8)
- Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations (2018) (8)
- Spondyloepiphyseal dysplasia. (1974) (8)
- Osteogenesis imperfecta congenita (2005) (7)
- A common pathomechanism in GMAP-210– and LBR-related diseases (2018) (7)
- Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria. (1985) (7)
- Pro and con the term "anomalad". (1978) (7)
- Hepatic ultrastructure in chondroitin-4-sulfate mucopolysaccharidosis (1971) (7)
- [Congenital alpha-cell deficiency as cause of a chronic infantile hypoglycemia?]. (1969) (7)
- Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism. (1977) (7)
- The campomelic syndrome--comments. (1974) (7)
- Biochemical definition of the mucopolysaccharidoses (2004) (7)
- Hypomorphic mutations of TRIP 11 cause odontochondrodysplasia (2019) (7)
- Quantitation of muscle cells of the ureter. (1977) (6)
- Catabolic disorders of complex carbohydrates. (1977) (6)
- EPIPHYSEAL CARTILAGE CHEMISTRY IN THANATOPHORIC DWARFISM (1977) (6)
- Difficulties in the classification of the epiphyseal dysplasias. (1975) (6)
- A new type of autosomal recessive spondyloepiphyseal dysplasia tarda (2004) (6)
- "New" dwarfing syndromes. (1977) (6)
- Etiology and Pathogenesis of the Prune Belly Syndrome (1983) (6)
- Different morphologic findings and genetic heterogeneity in pseudoachondroplasia: light- and electron-microscopic observations in iliac crest bioptic material. (1982) (6)
- Genetic disorders of connective tissues (1991) (6)
- Abstracts of meeting presentations (Part 5 of 11) (1979) (6)
- EEG in Mucolipidosis I (1975) (6)
- Changes in clinical practice with the unravelling of diseases: Connective-tissue disorders (2001) (5)
- Heterogeneity in Osteogenesis Imperfecta: Clinical and Morphological Findings (1988) (5)
- A rare form of spondylometaphyseal dysplasia-type A4. (1998) (5)
- [Differential diagnosis of primary constitutional osteopenias. Light and electron microscopy findings]. (1985) (5)
- Abstracts of meeting presentations (Part 2 of 5) (1979) (5)
- [Metatrophic dwarfism]. (1966) (5)
- STUDYING THE MUCOPOLYSACCHARIDOSES (1967) (5)
- Kniest disease. (1974) (5)
- Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism (1979) (5)
- Abstracts of meeting presentations (Part 3 of 11) (1979) (4)
- A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis (1974) (4)
- Frontonasal dysplasia as an expression of holoprosencephaly (1981) (4)
- A disorder resembling pseudoachondroplasia but without COMP mutation (2005) (4)
- [Classifiable and non-classifiable mucopolysaccharidoses]. (1969) (4)
- [Ballooning mitral valve in tricho-rhino-phalangeal syndrome (author's transl)]. (1976) (4)
- The development pathology of collagen in humans. (1987) (4)
- Osteogenesis imperfecta 1982. (1982) (4)
- Severe short-limb dwarfism resembling Grebe chondrodysplasia (1986) (4)
- Testing the effectiveness of antibiotic and homeopathic medication in the frame of herd reorganisation of subclinical mastitis in milk cows (2000) (4)
- Developmental terms—Some proposals (1979) (4)
- Prune belly syndrome and urethral obstruction. (1980) (4)
- The genetic mucolipidoses--definition and classification. (1975) (4)
- [Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?]. (1970) (4)
- [Aarskog syndrome (author's transl)]. (1973) (3)
- Chondrodysplasia Punctata, Brachytelephalangic Type (Mim 302950; 602497) (2012) (3)
- Syndrome of polydactyly, conical teeth and nail dysplasia. (1985) (3)
- Anthropometrische Normdaten im Kindesalter (2004) (3)
- Sponastrime dysplasia (2006) (3)
- [Early skeletal changes in mucolipidosis III]. (1976) (3)
- Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type (2018) (3)
- Sibs with a disorder resembling Blount disease (tibia vara) (2005) (3)
- Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. (2019) (3)
- Newly synthesized proteoglycans in pseudoachondroplasia. (1988) (3)
- [Hereditary arthro-ophthalmopathy]. (1968) (3)
- Aspartylglycosaminuria in an Italian family: Clinical and biochemical characteristics (1981) (2)
- Dysostosis Multiplex: Complex Carbohydrate Storage Diseases (2012) (2)
- Urinary oligosaccharide screening in patients with β-galactosidase deficiency (1980) (2)
- [Studies on mucopolysaccharide excretion in healthy children and in those with dysostosis]. (1966) (2)
- [Diagnosis and differential diagnosis of Morquio's disease]. (1969) (2)
- Severe neonatal dwarfism resembling the Kniest and Rolland types of chondrodysplasia. (1977) (2)
- Reply to Dr. Flannery (1989) (2)
- [Cartilage-hair hypoplasia]. (1967) (2)
- [Does dietary phosphate change the neurophysiologic functions and behavioral signs of hyperkinetic and impulsive children?]. (1980) (2)
- Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. (1993) (2)
- Asphyxiating Thoracic Dysplasia (Mim 208500) (2012) (2)
- Attention deficit syndrome in children born to alcoholic mothers. (1981) (2)
- Skelettdysplasien: Definition, Diagnose, Klassifikation (2015) (2)
- The W syndrome. Studies of malformation syndromes of man XXVIII. (1974) (2)
- [Arthogryposis multiplex congenita with neurogenic atrophy and brachydactyly (author's transl)]. (1979) (2)
- Environmental aspects in pediatrics (1995) (2)
- Syndromes A, syndromes B, syndromes C (2013) (2)
- [Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata]. (1990) (2)
- Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification. (2017) (2)
- [Comparative ultrastructural investigations of livers in mucopolysaccharidoses and mucolipidoses (author's transl)]. (1971) (2)
- Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency. (1974) (1)
- Multiple Cartilaginous Exostoses (MIM 133700) (2012) (1)
- Proceedings: The defect in Maroteaux-Lamy disease (mucopolysaccharidosis VI, subtype A): deficiency of N-acetylgalactosamine-4-sulfatase. (1974) (1)
- Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies (2021) (1)
- [Generalized skeletal dysplasias (author's transl)]. (1976) (1)
- Hyperostosis in siblings. (2016) (1)
- Alpha-L-iduronidase deficiency: a spectrum of clinical disorders (1974) (1)
- New perspectives in the human chondrodysplasias. (1988) (1)
- Die kraniometaphysäre Dysplasie (Pyle) (1965) (1)
- [Hereditary mucopolysaccharidoses]. (1971) (1)
- [Congenital spondylo-epiphyseal dysplasia: follow-up of a case over 9 years (author's transl)]. (1975) (1)
- [STUDIES ON THE PROBLEM OF THE HEREDITARY NATURE OF CANCER. FOLLOW-UP STUDIES ON THE UNSELECTED TWIN SERIES OF V. VERSCHUER AND KOBER]. (1964) (1)
- Achondroplasia phenotype due to novel FGFR3 mutation (2000) (1)
- [Lipomucopolysaccharidosis, A new storage disease]. (1968) (1)
- Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes (2015) (1)
- Disproportionate Short Stature: Diagnosis and Management, by Joseph A. Bailey, II, M.D., F.A.C.S. Philadelphia/London/Toronto: W. B. Saunders Co., 1973, 589 pp., $22.50 (1974) (1)
- Mucopolysaccharidoses and Oligosaccharidoses (2018) (1)
- Metaphyseal Dysplasia, Schmid Type (Mim 156500) (2012) (1)
- X‐linked Dyggve‐Melchior‐Clausen Syndrome (1981) (1)
- [Disease, syndrome, sequence]. (1989) (1)
- [Study of the classification of chondrodysplasias with mesomelic predominance]. (1977) (1)
- [Ring chromosome 18]. (1976) (1)
- The skull in achondroplasia. (1988) (1)
- Child (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) Syndrome (Mim 308050) (2012) (1)
- Mucopolysaccharides and Oligosaccharides (1995) (1)
- [A new form of mucolipidosis]. (1976) (1)
- Does vitamin K cause cancer? (1993) (1)
- [NITROFURANS IN THE TREATMENT OF INFANTILE URINARY TRACT AND INTESTINAL INFECTIONS]. (1963) (0)
- Poland Syndrome (MIM 173800) (2012) (0)
- Cleidocranial Dysplasia (Mim 119600) (2012) (0)
- Osteoectasia with Hyperphosphatasia (Mim 239000) (2012) (0)
- Liver diseases and hepatitis B virus antigens and antibodies in chronic HBsAg carriers in childhood (1980) (0)
- Cerebrocostomandibular Syndrome (MIM 117650) (2012) (0)
- Classification of Skeletal Dysplasias (1991) (0)
- [The metabolic basis of generalized skeletal dysplasia (author's transl)]. (1976) (0)
- Filamin A Group (2012) (0)
- Hypomorphic mutations of TRIP11 cause (2019) (0)
- Eiken Dysplasia (Mim 600002) (2012) (0)
- Teratogenicity of vitamin-A analogs (2004) (0)
- Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400) (2012) (0)
- Editorial note: Thanks to John Opitz (1985) (0)
- [Cherubism. Familial fibrious dysplasia of the jaw bones]. (1966) (0)
- Progressive Osseous Heteroplasia (MIM 166350) (2012) (0)
- Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (Smmd) (Mim 613330) (2012) (0)
- Fibrodysplasia Ossificans Progressiva (MIM 135100) (2012) (0)
- SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA: MORPHOLOGICAL AND BIOCHEMICAL STUDIES IN CULTURED CHONDROCYTES (1989) (0)
- Odontochondrodysplasia (Mim 184260) (2012) (0)
- Overgrowth/Accelerated Skeletal Maturation Syndromes (Selected) (2018) (0)
- Kenny-Caffey syndrome (Mim 244460 [Type I]; 127000 [Type 2]) (2012) (0)
- Metaphyseal Dysplasia, Spahr Type (Mim 250400) (2012) (0)
- [THE HAND SKELETAL DEVELOPMENT OF OBESE CHILDREN]. (1964) (0)
- Enchondromatosis (Ollier Disease) (MIM 166000) (2012) (0)
- Trichodentoosseous Dysplasia (Mim 190320) (2012) (0)
- Heterogeneity dwarfism of nonlethal severe short-limbed (1977) (0)
- Cherubism (MIM 118400) (2012) (0)
- Pachydermoperiostosis, Autosomal Dominant (Mim 167100) (2012) (0)
- Cumming Dysplasia (Mim 211890) (2012) (0)
- Chondrodysplasia Punctata, Autosomal Dominant Type (Mim 118650; 215105) (2012) (0)
- [Treatment of osteogenesis imperfecta with (+)-catechin (author's transl)]. (1979) (0)
- Spondylometaphyseal dysplasia type VII. (1993) (0)
- [Biochemical differentiation of mucopolysaccharidoses]. (1970) (0)
- Multiple Epiphyseal Dysplasias, Autosomal Dominant (MIM 132400, 600204, 600969, 607078) (2012) (0)
- Chondrodysplasia Punctata, Rhizomelic Type (Mim 215100, 222765, 600121) (2012) (0)
- Short-Rib (±Polydactyly) Dysplasias (2018) (0)
- TYPE 11 COLLAGEN GROUP (2012) (0)
- Short Rib (-Polydactyly) Syndrome, Saldino-Noonan and Verma-Naumoff Types (MIM 263530, 263510) (2012) (0)
- [Recent data on mucopolysaccharidoses]. (1973) (0)
- Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges (1998) (0)
- Langer Mesomelic Dysplasia (Mim 249700) (2012) (0)
- Mainzer-Saldino Syndrome (Mim 266920) (2012) (0)
- Hypophosphatasia (Mim 146300, 241500) (2012) (0)
- [Formation of storage elements in liver cells in lipomucopolysaccharidosis]. (1970) (0)
- Röntgendiagnostik der Skeletterkrankungen / Diseases of the Skeletal System (Roentgen Diagnosis) (1976) (0)
- [CRANIOMETAPHYSIAL DYSPLASIA (PYLE)]. (1965) (0)
- Specific skeletal dysplasias due to type II procollagen gene (COL2A1) defects (1994) (0)
- Chondrodysplasia with joint dislocations, gPAPP type (2012) (0)
- Differential Diagnosis of Single Skeletal Defects (2004) (0)
- Major Clinical Findings (2012) (0)
- Osteopathia Striata with Cranial Sclerosis (Mim 300373) (2012) (0)
- Gnathodiaphyseal Dysplasia (Mim 166260) (2012) (0)
- Acromicric Dysplasia (Mim 102370) (2012) (0)
- Marshall-Smith Syndrome (MIM 602535) (2012) (0)
- Osteogenesis Imperfecta and Other Disorders with Decreased Bone Density (2018) (0)
- Sulfate Transporter Group (2012) (0)
- Craniometaphyseal Dysplasia (Mim 123000; 218400) (2012) (0)
- Spondylocostal Dysostoses (2018) (0)
- [Syndromes, Clinical recognition and significance]. (1978) (0)
- Craniosynostosis Syndromes (2018) (0)
- Acromesomelic and Acromelic Dysplasias/Dysostoses (2018) (0)
- Development of the Normal Fetal Skeleton (2004) (0)
- Brain Tumours and Genetics (1982) (0)
- Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (MIM 609223) (2012) (0)
- Metaphyseal Chondromatosis with 2-Hydroxyglutaric Aciduria (2012) (0)
- Acknowledgement to our reviewers (2005) (0)
- Pachydermoperiostosis, Autosomal Recessive (Mim 259100) (2012) (0)
- Polytopic Dysostoses (2018) (0)
- Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias (2018) (0)
- Subject Index Vol. 25, 1979 (1979) (0)
- Catel-Manzke Syndrome (Mim 302380) (2012) (0)
- Omodysplasia, Autosomal Recessive (MIM 258315, 251455, 268250) (2012) (0)
- Cousin Dysplasia (Mim 260660) (2012) (0)
- Letters to the editor (2005) (0)
- Dense Bone Dysplasias with Normal Bone Shape (2018) (0)
- Disorders with Prenatal Short Stature and Slender Bones (2018) (0)
- Achondrogenesis Type 1A (Mim 200600) (2012) (0)
- Axial Spondylometaphyseal Dysplasia (Mim 602271) (2012) (0)
- Professor H.-R. Wiedemann: on the occasion of his 70th birthday (1985) (0)
- Calvarial Doughnut Lesions-Osteoporosis Syndrome (Mim 126550) (2012) (0)
- Brachyolmia, Autosomal Recessive (Mim 271530, 271630) (2012) (0)
- Juvenile Idiopathic Osteoporosis (Mim 259750) (2012) (0)
- Filamin-Associated Dysplasias/Dysostoses and Related Disorders (2018) (0)
- [Congenital metabolic disorders with preferred localization in the skeletal system]. (1982) (0)
- Editorial comment (2004) (0)
- Beta-D-glucuronidase deficiency mucopolysaccharidosis (1974) (0)
- Osteopetrosis, Ectodermal Dysplasia, Immune Defect (Mim 300301) (2012) (0)
- [Embryopathies due to antiepileptics]. (1978) (0)
- Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects (2018) (0)
- Pseudoachondroplasia and Dominant Epiphyseal Dysplasia (2018) (0)
- Achondroplasia and Related FGFR3 Conditions (2018) (0)
- Constitutional Disorders of Skeletal Development: The Skeletal Dysplasias (1978) (0)
- [Anthropometric standards in childhood]. (1968) (0)
- Dysorders with Defective Mineralization (2018) (0)
- Announcements and news (2005) (0)
- Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias (2018) (0)
- [Kniest's disease]. (1973) (0)
- Oculodentoosseous Dysplasia (Mim 164200) (2012) (0)
- Drs. Roubicek and spranger reply to Dr. Wassman (1985) (0)
- Rhizomelic/Mesomelic Dysplasias (Mim 127300) (2012) (0)
- Familial Digital Arthropathy with Brachydactyly (Mim 606835) (2012) (0)
- Catalog of mapped human gene markers. (1980) (0)
- Cranioectodermal Dysplasia (Mim 218330) (2012) (0)
- Geleophysic Dysplasia (Mim 231050) (2012) (0)
- Genochondromatosis (MIM 137360) (2012) (0)
- Ein verdickter Finger stiftet Verwirrung (2016) (0)
- [2. Obesity due to overeating. Symptoms and classification of various forms of obesity]. (1975) (0)
- Trichorhinophalangeal Syndrome, Type II (Mim 150230) (2012) (0)
- Greenberg Dysplasia/Dappled Diaphyseal Dysplasia (Mim 215140) (2012) (0)
- Advances in bone dysplasias. (1982) (0)
- [Lysosomal enzyme defects]. (1983) (0)
- Nail-Patella Syndrome (Mim 161200) (2012) (0)
- Blomstrand Chondrodysplasia (Mim 215045) (2012) (0)
- Spondylometaphyseal Dysplasia, Sutcliffe/Corner Fracture Type (Mim 184255) (2012) (0)
- Albright Hereditary Osteodystrophy (Mim 103580, 600430, 612462, 612463) (2012) (0)
- [Skeletal changes in inborn errors of metabolism (author's transl)]. (1981) (0)
- 72: The diagnosis of mucolipidosis II in a pregnancy at risk by studies on amniotic materials (1976) (0)
- Chondrodysplasia Punctata, Tibia-Metacarpal Type (Mim 118651) (2012) (0)
- [Experience in the management of juvenile diabetes using sulfonylureas]. (1968) (0)
- Infantile Systemic Hyalinosis and Juvenile Hyaline Fibromatosis (MIM 228600, 236490) (2012) (0)
- Limb Aplasias and Hypoplasias (Selected) (2018) (0)
- [Comments on the report on "Osteogenesis imperfecta"]. (1979) (0)
- Osteoglophonic Dysplasia (MIM 166250) (2012) (0)
- P1.53 GLUT4 expression in early critical illness myopathy (2010) (0)
- Mesomelic Dysplasia with Acral Synostoses (Mim 600383) (2012) (0)
- Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges. (1998) (0)
- Fibrous Dysplasia (Mim 174800) (2012) (0)
- Adducted thumb-club foot syndrome in sibs of a consanguineous (2001) (0)
- Cinca (Chronic Infantile Neurologic Cutaneous and Articular) Syndrome (Mim 607115) (2012) (0)
- Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (Mim 608940) (2012) (0)
- [Diastrophic dwarfism]. (1967) (0)
- GHOSAL HEMATODIAPHYSEAL DYSPLASIA (MIM 231095) (2012) (0)
- Chondrodysplasia with Joint Luxations, Chst3-Related (Mim 143095) (2012) (0)
- Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type (Mim 271665) (2012) (0)
- [HS-mucopolysaccharidosis of Sanfilippo (polydystrophic oligophrenia). A report on 10 patients]. (1967) (0)
- Short Rib (-Polydactyly) Syndrome, Majewski Type (Mim 263520) (2012) (0)
- Multiple Synostoses Syndrome (Syns) and Proximal Symphalangism (Sym) (Mim 186500; 610017; 185800) (2012) (0)
- Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders (2018) (0)
- Metaphyseal Acroscyphodysplasia (Mim 250215; 609990; 609989) (2012) (0)
- Acromesomelic Dysplasia, Maroteaux Type (Mim 602875) (2012) (0)
- Microcephalic Osteodysplastic Primordial Dwarfism, Type 2 (Mim 210720) (2012) (0)
- Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 (Mim 210710, 210730) (2012) (0)
- Sclerosteo-Cerebellar Syndrome (Mim 213002) (2012) (0)
- Hajdu-Cheney Osteolysis (MIM 102500) (2012) (0)
- Ischiopatellar Dysplasia (Mim 147891) (2012) (0)
- Ectrodactyly -Ectodermal Dysplasia-Cleft Lip/Palate Syndrome and Isolated Ectrodactyly (Mim 129900; 604292; 119100; 313350; 600095; 605289; 603273; 225300) (2012) (0)
- Mesomelic Dysplasia, Reardon-Kozlowski Type (MIM 249710) (2012) (0)
- Omenn Syndrome with Metaphyseal Chondrodysplasia (Mim 200900; 603554) (2012) (0)
- Metaphyseal Dysplasia, Jansen Type (Mim 156400) (2012) (0)
- Spondyloepimet Aphyseal Dysplasia with Joint Laxity (Mim 271640) (2012) (0)
- Schimke Immunoosseous Dysplasia (MIM 242900) (2012) (0)
- CT evaluation of an eosinophilic granuloma simulating an aggressive rib neoplasm. (1993) (0)
- Dysplasia Epiphysealis Hemimelica (MIM 127800) (2012) (0)
- Mesomelic Dysplasia, Kantaputra Type (MIM 156232) (2012) (0)
- Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis (DOI: 10.1016/j.ajhg.2008.05.006) (2008) (0)
- Hereditary Rickets (Mim 307800, 193100, 241520, 613312, 241530, 264700, 600081, 277440, 600785) (2012) (0)
- Mesomelic Dysplasia, Werner Type (Mim 135750; 174500; 188740; 188770) (2012) (0)
- (Homeopathy as flanking measure of the aetiologically-oriented eradication of reproduction disorders in cows) (1994) (0)
- Cole-Carpenter Syndrome (Mim 112240) (2012) (0)
- Advances in Human Genetics (1983) (0)
- Endosteal Hyperostosis, Van Buchem Type (Mim 239100, 269500) (2012) (0)
- Punctate Calcification Group (2018) (0)
- Short Rib (-Polydactyly) Syndrome, Beemer-Langer Type (Mim 269860) (2012) (0)
- [Diagnostic significance of iliac crest biopsies in spondyloepiphyseal skeletal dysplasias. Light and electron microscopy findings in the iliac crest]. (1982) (0)
- Dysplasias with Predominant Metaphyseal Involvement (2018) (0)
- Disorders with Defective Joint Formation (2018) (0)
- [Studies on the composition of urinary mucopolysaccharides in children and adults]. (1967) (0)
- Aggrecan-Associated Skeletal Dysplasias (MIM 608361, 612813) (2012) (0)
- Chondrodysplasia Punctata Conradi-Hünermann Type (MIM 302960) (2012) (0)
- Mesomelic Dysplasia, Nievergelt-Savarirayan Type (Mim 163400; 605274) (2012) (0)
- Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes (2006) (0)
- Mandibuloacral Dysplasia (MIM 248370; 608612) (2012) (0)
- [Connatal varicella embryo-fetopathy]. (1985) (0)
- Rhizo-Mesomelic Dysplasias (2018) (0)
- Campomelic Dysplasia (Mim 211990, 114290) (2012) (0)
- Craniodiaphyseal Dysplasia (Mim 112860, 218300) (2012) (0)
- Skeletal dysplasias in children (1991) (0)
- Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. (1991) (0)
- [Possibilities of serum heterozygote tests in genetic mucopolysaccharidoses]. (1974) (0)
- Editorial comment (2004) (0)
- Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations (2018) (0)
- Diaphyseal Medullary Stenosis with Bone Malignancy (Mim 112250) (2012) (0)
- Urinary oligosaccharide screening in patients with beta-galactosidase deficiency. (1980) (0)
- Progressive Pseudorheumatoid Chondrodysplasia (Mim 208230) (2012) (0)
- [Morphologic, clinical and biochemical findings in Mucolipidosis II (author's transl)]. (1976) (0)
- Carpenter Syndrome (MIM 201000) (2012) (0)
- The Radiographic Features of Mannosidosis 1 (1976) (0)
- Shwachman Syndrome (Mim 260400) (2012) (0)
- John M Opitz, Founder of AJMG, awarded the German Merit of Honor (2017) (0)
- Angel-Shaped Phalangoepiphyseal Dysplasia (MIM 105835) (2012) (0)
- Image (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies) Syndrome (Mim 300290) (2012) (0)
- mutation R 279 W DTDST homozygotes for ( rMED ) : phenotype delineation in eighteen Recessive multiple epiphyseal dysplasia (2002) (0)
- Spondyloepimetaphyseal Dysplasia with Leptodactyly (Mim 603546) (2012) (0)
- Disorders Caused by Disorganization of Skeletal Constituents (2018) (0)
- [Possibilities of cancer prevention; experience with the cancer prevention program in the United States]. (1959) (0)
- Spondyloocular Dysplasia (Mim 605822) (2012) (0)
- Multicentric Carpal-Tarsal Osteolysis (MIM 166300) (2012) (0)
- Progeria (MIM 176670) (2012) (0)
- Femoral Hypoplasia-Unusual Facies Syndrome (FHUFS) (MIM 134780) (2012) (0)
- Grebe Dysplasia (MIM 200700, 201250, 228900) (2012) (0)
- Diagnose einer Mucolipidose II (i-cell disease) im Neugeborenenalter (2004) (0)
- Neonatal Severe Primary Hyperparathyroidism (Mim 239200) (2012) (0)
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