List of works - Ralph S. Lachman

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

scientific article published in March 1995

Nosology and classification of genetic skeletal disorders: 2010 revision

scientific article

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

scientific article

Nosology and classification of genetic skeletal disorders: 2015 revision

scientific article published on 23 September 2015

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

scientific article published on 29 February 2004

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

scientific article

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

scientific article

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

scientific article

Pachydermoperiostosis: an update

scientific article

Exome sequencing identifies PDE4D mutations in acrodysostosis

scientific article published on 29 March 2012

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

scientific article published on 24 December 2008

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

scientific article

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

scientific article published on July 7, 1998

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

scientific article

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling

scientific article published in March 2012

The lacrimo-auriculo-dento-digital syndrome

scientific article published on 01 September 1973

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

scientific article published in February 1996

Prenatal diagnosis of the skeletal dysplasias

scientific article published in September 1993

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

scientific article published on January 1988

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

scientific journal article

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis

scientific article published in January 1996

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

scientific article

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

scientific article published on March 1, 1988

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

scientific article published on January 1, 1991

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

scientific article published on May 1, 1979

The Kniest syndrome

scientific article published on April 1, 1975

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia

scientific article published on June 1996

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

scientific article published on September 1976

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

scientific article

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

scientific article published on May 26, 1998

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

scientific article published in March 2003

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

scientific article published on 01 January 2001

The phenotypic variability of diastrophic dysplasia

scientific article published in October 1978

The Winchester syndrome: a nonlysosomal connective tissue disease

scientific article published on 01 May 1974

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

scientific article

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

scientific article published on 04 January 2014

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

scientific article published on January 1988

Brachyolmia: radiographic and genetic evidence of heterogeneity

scientific article published on June 1989

The skeletal dysplasias: clinical-molecular correlations

scientific article

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

scientific article

Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation

scientific article published on February 20, 1998

The Erlenmeyer flask bone deformity in the skeletal dysplasias

scientific article

Neonatal dwarfism

scientific article published on August 1, 1978

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis

scientific article published on 01 August 2008

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

scientific article

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

scientific article published on November 22, 2001

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)

scientific article published on 01 February 1984

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

scientific article

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

scientific article (publication date: 2 July 1999)

List of works by Ralph S. Lachman

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

Nosology and classification of genetic skeletal disorders: 2010 revision

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nosology and classification of genetic skeletal disorders: 2015 revision

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

Pachydermoperiostosis: an update

Exome sequencing identifies PDE4D mutations in acrodysostosis

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling

The lacrimo-auriculo-dento-digital syndrome

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

Prenatal diagnosis of the skeletal dysplasias

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

The Kniest syndrome

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

The phenotypic variability of diastrophic dysplasia

The Winchester syndrome: a nonlysosomal connective tissue disease

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

Brachyolmia: radiographic and genetic evidence of heterogeneity

The skeletal dysplasias: clinical-molecular correlations

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Neonatal dwarfism

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3