Jürgen W. Spranger

Jürgen W. Spranger's AcademicInfluence.com Rankings

Jürgen W. Spranger

Biology

#9000

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#12154

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Genetics

#911

World Rank

#1007

Historical Rank

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Biology

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Jürgen W. Spranger's Published Works

Number of citations in a given year to any of this author's works

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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