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List of works by Richard C Trembath

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article

A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis

article

A Defect in the Regional Deposition of Adipose Tissue (Partial Lipodystrophy) Is Encoded by a Gene at Chromosome 1q ⬇️

scientific article published on August 1, 1998

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

scientific article published on 31 December 2012

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

scientific article published on 16 May 2013

A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.

scientific article

A dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cells

scientific article

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

scientific article

A non-HLA gene within the MHC in psoriasis

scientific article published in The Lancet

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

scientific article

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

scientific article

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

scientific article (publication date: September 2000)

A strategy for translation

scientific article published in The Lancet

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production

scientific article published on 04 July 2016

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking

scientific article

Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis

scientific article

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

scientific article

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

scientific article published on 23 July 2015

Albright's hereditary osteodystrophy

scientific article

Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis

scientific article published on 24 November 2011

Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins

scientific article

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target. ⬇️

scientific article

An association between psoriasis and hereditary multiple exostoses. A clue for the mapping of a psoriasis susceptibility gene?

article

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

scientific article published in May 2003

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

scientific article

An update on the genetics of psoriasis.

scientific article published in October 2004

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

scientific article

Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation

scientific article published in July 2013

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

scientific article published on December 2005

Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor

scientific article published on 01 January 1998

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

scientific article

BMP4 induces HO-1 via a Smad-independent, p38MAPK-dependent pathway in pulmonary artery myocytes

scientific article

BMP4 inhibits proliferation and promotes myocyte differentiation of lung fibroblasts via Smad1 and JNK pathways

scientific article

BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH

article

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

article

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

scientific article published in August 2005

Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells

scientific article

CdGAP is required for transforming growth factor β- and Neu/ErbB-2-induced breast cancer cell motility and invasion.

scientific article

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy

scientific article published on May 1994

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension

scientific article

Chromosome 11 q13 and atopy underlying atopic eczema

scientific article published in The Lancet

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

scientific article

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

scientific article

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

scientific journal article

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

scientific article published on 12 September 2010

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

scientific article published in June 2005

Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family

scientific article published in August 1999

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

scientific article

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy

scientific article published in November 2002

Corneodesmosin expression in psoriasis vulgaris differs from normal skin and other inflammatory skin disorders

scientific article published in July 2001

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies

scientific article published on 21 April 2015

De novo mutations in MLL cause Wiedemann-Steiner syndrome

scientific article

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

scientific article published on 19 January 2012

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

scientific article

Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension

scientific article

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

scientific article (publication date: 5 December 1992)

Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes.

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Does BMPR2 Mutation Disrupt Pulmonary Vasculogenesis?

scientific article published on 01 December 2005

Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy

scientific article published in January 1997

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

scientific article

Dysfunctional Smad Signaling Contributes to Abnormal Smooth Muscle Cell Proliferation in Familial Pulmonary Arterial Hypertension

scientific article published on 21 April 2005

Effect of octreotide on gall stone prevalence and gall bladder motility in acromegaly

scientific article

Effect of oral erythromycin on gallbladder motility in normal subjects and subjects with gallstones

scientific article published in June 1992

Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension

scientific article published on 16 August 2010

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

scientific article published on 5 May 2015

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

scientific article (publication date: February 2000)

Evaluating potential drug targets through human loss-of-function genetic variation

scientific article

Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris

article

Exclusion of Interleukin-1 Receptor Antagonist as a Primary Disease Determinant for Psoriasis

scientific article published on 01 February 1995

Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue

scientific article published on 21 July 2008

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

scientific article published on August 1999

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

scientific article

Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus

scientific article

Filaggrin null alleles are not associated with psoriasis

scientific article published on 5 April 2007

Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1

scientific article published on 01 June 2002

Functional MASP2 single nucleotide polymorphism plays no role in psoriasis

scientific article published in June 2005

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension

scientific article

Functional characterization of bone morphogenetic protein binding sites and Smad1/5 activation in human vascular cells

scientific article published on 7 November 2007

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension

scientific article

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

scientific article

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

scientific article

Genetic Analysis of PSORS1 Distinguishes Guttate Psoriasis and Palmoplantar Pustulosis

article

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis.

scientific article published in June 2004

Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris

scientific article published on 12 August 2009

Genetic association analysis using data from triads and unrelated subjects

scientific article published on 14 February 2005

Genetic association of the serotonin transporter in pulmonary arterial hypertension.

scientific article published on 6 January 2006

Genetic determinants of risk and survival in pulmonary arterial hypertension

article

Genetic mechanisms and mental retardation

scientific article published on March 1994

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic studies of atopy and atopic dermatitis

scientific article published on January 1997

Genetic variants of the insulin receptor in type II (non-insulin dependent) diabetes mellitus

scientific article published on 01 January 1988

Genetics and genomics of pulmonary arterial hypertension

scientific article

Genetics of Silver-Russell Syndrome ⬇️

scientific article published on January 1, 1998

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.

scientific article

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms

scientific article

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

scientific article published in Nature Communications

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

scientific article

Genomic structure of the human congenital chloride diarrhea (CLD) gene

scientific article

Germline CDH1 mutations in bilateral lobular carcinoma in situ

scientific article published on 24 December 2013

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

scientific article published on 3 March 2016

Germline FH mutations presenting with pheochromocytoma

scientific article published on 8 July 2014

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

scientific article

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

scientific article published in November 2000

Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility

scientific article published in June 2003

Health and population effects of rare gene knockouts in adult humans with related parents

scientific article

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro

scientific article published in April 2016

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis

scientific article published on 12 November 2014

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome

article

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

article

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

scientific article

Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis

scientific article published on May 1997

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

scientific article published on 12 April 2018

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

scientific article published in June 1999

Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension

article

Inhibition of overactive transforming growth factor-β signaling by prostacyclin analogs in pulmonary arterial hypertension

scientific article

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

scientific article published on 18 May 2009

Insights into the genetic and molecular basis of primary pulmonary hypertension.

scientific article

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial Hypertension

scientific article published on 01 February 2005

Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13

scientific article

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

scientific article

Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families

scientific article published on July 1, 1997

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

article

Lessons from lipodystrophy:LMNA, encoding lamin A/C, in HIV therapy-associated lipodystrophy

article

Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young

article

Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study

scientific article published in February 2018

Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris.

scientific article

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

scientific article published on 01 October 2018

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

scientific article published on 25 August 2004

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

scientific article published on 26 April 2013

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

scientific article

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene

scientific article published in June 1994

Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

scientific article published on 12 February 2020

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

scientific article

Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population.

scientific article

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

scientific article

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

scientific article

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

scientific article

Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer

article

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

scientific article published on 11 October 2011

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

scientific article published in May 2004

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

scientific article published on 01 May 2003

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

scientific article

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

scientific article

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

article by Pia Ostergaard et al published 4 September 2011 in Nature Genetics

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

scientific article

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

scientific article published on 26 January 2012

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

scientific article

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

scientific article

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

scientific article

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

scientific article

Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertension

scientific article published on 24 April 2008

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

scientific article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)

article

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome

scientific article published on April 2002

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension

scientific article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

scientific article

Nesidioblastosis: evidence for autosomal recessive inheritance

scientific article published on April 1991

Neuro-otological findings in Pendred syndrome

scientific article published in March 2003

New insights into the pathogenesis and treatment of primary pulmonary hypertension ⬇️

scientific article published on November 1, 2001

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

scientific article published on October 2006

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis

scientific article

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

scientific article published on 5 August 2016

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

scientific article

Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood

article

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scientific article

PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

scientific article

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

scientific article

Pendred syndrome

scientific article

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

scientific article

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

article

Pendred syndrome--100 years of underascertainment? ⬇️

scientific article published on July 1, 1997

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

scientific article

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

scientific article published on 28 September 2017

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.

scientific article

Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema

article

Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor

scientific article

Primary pulmonary hypertension: the pressure rises for a gene.

scientific article

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

scientific article

Psoriasis and other complex trait dermatoses: from Loci to functional pathways

scientific article

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease.

scientific article

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

scientific article published on 21 September 2015

Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

scientific article published in July 2002

Radiological malformations of the ear in Pendred syndrome

scientific article published in April 1998

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

scientific article published on 10 January 2013

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.

scientific article

Regulation of bone morphogenetic protein signalling in human pulmonary vascular development

scientific article

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton

scientific article

Searching for the major histocompatibility complex psoriasis susceptibility gene.

scientific article

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

scientific article

Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

scientific article published on 22 June 2007

Serotonin increases susceptibility to pulmonary hypertension in BMPR2-deficient mice

scientific article published on 23 February 2006

Skin tumours and a family history of cancer

scientific article published on 01 September 2005

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension

scientific article published on 04 March 2008

Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia

scientific article (publication date: 7 April 2009)

The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans

scientific article

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

scientific article published in February 2005

The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.

scientific article published on January 2005

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

scientific article

Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome

scientific article

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals

scientific article published in 2022

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

scientific article

Translational medicine and the NIHR Biomedical Research Centre concept

scientific article published on 08 August 2008

Ultraviolet B induced suppression of induction of contact sensitivity in human skin is not associated with tumour necrosis factor-alpha-308 or interleukin-10 genetic polymorphisms

scientific article

Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome?

scientific article published on 01 March 1996

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