(Q34125646)

31 July 2017

1 reference

title

Ectodermal dysplasias: not only 'skin' deep (English)

1 reference

Margherita Cirillo Silengo

31 July 2017

series ordinal

2

1 reference

31 July 2017

Priolo M

1

1 reference

PubMed ID

11149610

31 July 2017

Lerone M

series ordinal

3

1 reference

PubMed ID

11149610

31 July 2017

Ravazzolo R

series ordinal

4

1 reference

31 July 2017

1 December 2000

1 reference

31 July 2017

1 reference

31 July 2017

58

1 reference

31 July 2017

6

1 reference

31 July 2017

415-430

1 reference

Ectodermal dysplasias: a clinical classification and a causal review

31 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Ectodermal dysplasia: the otolaryngologic manifestations and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Involvement of a novel Tnf receptor homologue in hair follicle induction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Gene expression of potential morphogens during hair follicle and tooth formation: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Molecular mechanisms of cell and tissue interactions during early tooth development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Teeth. Where and how to make them.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Lef1 expression is activated by BMP-4 and regulates inductive tissue interactions in tooth and hair development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Bone morphogenetic proteins: multifunctional regulators of vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Expression and function of FGFs-4, -8, and -9 suggest functional redundancy and repetitive use as epithelial signals during tooth morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A family of ligands for the TNF receptor superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Tumor necrosis factor receptor superfamily members and their ligands

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Death-inducing functions of ligands of the tumor necrosis factor family: a Sanhedrin verdict.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The transmembrane form of tumor necrosis factor is the prime activating ligand of the 80 kDa tumor necrosis factor receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Downregulation of Fas ligand by shedding

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Sonic hedgehog signaling is essential for hair development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The Bloom's syndrome gene product is homologous to RecQ helicases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Positional cloning of the Werner's syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mechanism of open complex and dual incision formation by human nucleotide excision repair factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

p63 is a p53 homologue required for limb and epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Molecular mechanisms controlling lung morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Positional Information in Chick Limb Morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Differential and overlapping expression domains of Dlx-2 and Dlx-3 suggest distinct roles for Distal-less homeobox genes in craniofacial development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Placental failure in mice lacking the homeobox gene Dlx3

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Regulation of epidermal differentiation by a Distal-less homeodomain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Transcriptional activation by the homeodomain protein distal-less 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Characterization of a novel gene encoding zinc finger domains identified from expressed sequence tags (ESTs) of a human heart cDNA database

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Isolation and characterization of 21 novel expressed DNA sequences from the distal region of human chromosome 4p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Dyskeratosis congenita: an inherited bone marrow failure syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Dyskeratosis congenita is a chromosomal instability disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Structure and Function in the Nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Nopp140 functions as a molecular link between the nucleolus and the coiled bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Coiled bodies and gems: Janus or gemini?

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The plurifunctional nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Function and synthesis of small nucleolar RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Pachyonychia Congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The distribution of the desmosomal protein, plakophilin 1, in human skin and skin tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Glycine loops in proteins: their occurence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

THE SYNDROME OF PALMAR-PLANTAR HYPERKERATOSIS AND PREMATURE PERIODONTAL DESTRUCTION OF THE TEETH. A CLINICAL AND GENETIC ANALYSIS OF THE PAPILLON-LEF'EVRE SYNDROME.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Human dipeptidyl-peptidase I. Gene characterization, localization, and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Molecular cloning and sequence analysis of human preprocathepsin C

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Homeobox genes Msx-1 and Msx-2 are associated with induction and growth of skin appendages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Epidermal dysplasia and abnormal hair follicles in transgenic mice overexpressing homeobox gene MSX-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Transformation of tooth type induced by inhibition of BMP signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Posttranscriptional gene silencing in Neurospora by a RecQ DNA helicase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

Hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

From a DNA helicase to brittle hair

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Clinical Spectrum of Anhidrotic Ectodermal Dysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Unraveling function in the TNF ligand and receptor families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Rothmund-Thomson syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Telomerase prevents the accelerated cell ageing of Werner syndrome fibroblasts

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Limb development: molecular dysmorphology is at hand!

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Ectoderm-mesenchyme and mesenchyme-mesenchyme interactions regulate Msx-1 expression and cellular differentiation in the murine limb bud

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Symptomatic heterozygosity in the Ellis-van Creveld syndrome?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Pachyonychia congenita associated with steatocystoma multiplex

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Endopeptidase activity of cathepsin C, dipeptidyl aminopeptidase I, from bovine spleen

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Paths of glorious proteases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Syndromic foramina parietalia permagna

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Antagonistic effects of FGF4 on BMP induction of apoptosis and chondrogenesis in the chick limb bud

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

Requirement of yeast SGS1 and SRS2 genes for replication and transcription

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580601.X

7 January 2021

10.1034/J.1399-0004.2000.580601.X

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11149610