(Q38743626)

6 September 2017

The Ehlers-Danlos syndromes, rare types (English)

1 reference

6 September 2017

Ehlers-Danlos syndrome

0 references

16

Fransiska Malfait

0 references

Sylvie Fournel-Gigleux

3

Sylvie Fournel-Gigleux

0 references

Ines Kapferer-Seebacher

6

Ines Kapferer-Seebacher

0 references

Caroline van Mourik

13

Caroline van Mourik

0 references

Neeti Ghali

4

Neeti Ghali

1 reference

6 September 2017

Angela F Brady

1

1 reference

6 September 2017

Serwet Demirdas

2

1 reference

6 September 2017

Sylvie Fournel-Gigleux

3

1 reference

6 September 2017

Cecilia Giunta

5

1 reference

6 September 2017

Ines Kapferer-Seebacher

6

1 reference

6 September 2017

Tomoki Kosho

7

1 reference

6 September 2017

Roberto Mendoza-Londono

8

1 reference

6 September 2017

Michael F Pope

9

1 reference

6 September 2017

Marianne Rohrbach

10

1 reference

6 September 2017

Tim Van Damme

11

1 reference

6 September 2017

Anthony Vandersteen

12

1 reference

6 September 2017

Caroline van Mourik

13

1 reference

6 September 2017

Nicol Voermans

14

1 reference

6 September 2017

Johannes Zschocke

15

1 reference

6 September 2017

1 March 2017

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

6 September 2017

1 reference

6 September 2017

175

1 reference

6 September 2017

1

1 reference

6 September 2017

70-115

1 reference

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

6 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Further delineation of Nevo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Aggressive periodontitis: case definition and diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Periodontal diagnoses and classification of periodontal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Serious ophthalmological complications in the Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

What syndrome is this? Ehlers-Danlos syndrome type VIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The crystal structure of the zymogen catalytic domain of complement protease C1r reveals that a disruptive mechanical stress is required to trigger activation of the C1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Brittle cornea syndrome: recognition, molecular diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Critical care of kyphoscoliotic type Ehlers-Danlos syndrome with recurrent vascular emergencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

DNA methylation and carcinogenesis of PRDM5 in cervical cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The Human Collagen Mutation Database 1998.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Evaluating clinical periodontal measures as surrogates for bacterial exposure: the Oral Infections and Vascular Disease Epidemiology Study (INVEST).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A case with adducted thumb and club foot syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Zinc transporters and the cellular trafficking of zinc

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A hereditary dysplasia of collagen tissues in sheep.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Zinc signal: a new player in osteobiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Deciphering the fine details of c1 assembly and activation mechanisms: "mission impossible"?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity--targets--functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Mendelian forms of periodontitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Global burden of severe periodontitis in 1990-2010: a systematic review and meta-regression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The Ehlers-Danlos syndrome: on beyond collagens

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Genetic study of families affected with aggressive periodontitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A Heritable Disorder of Connective Tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Classical complement pathway components C1r and C1s: purification from human serum and in recombinant form and functional characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Tenascin-X: beyond the architectural function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Sensitive and specific detection of early gastric cancer with DNA methylation analysis of gastric washes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

PRDM5 identified as a target of epigenetic silencing in colorectal and gastric cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Molecular genetic and clinical review of Ehlers-Danlos Type VIIA: implications for management by the plastic surgeon in a multidisciplinary setting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb-clubfoot syndrome”

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Dermatosparaxis (Ehlers-Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31550

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31550

1 reference

6 September 2017

1 reference