D. Kelberman

发表

Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.

M. Dattani, P. Hindmarsh, R. Padidela, 2009, The Journal of clinical endocrinology and metabolism.

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld‐rieger disease severity

R. Hennekam, T. Jacques, P. Calvas, 2011, Human mutation.

The role of SOX proteins in normal pituitary development.

M. Dattani, D. Kelberman, K. Alatzoglou, 2008, The Journal of endocrinology.

Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

M. Dattani, C. Cowell, I. Arnhold, 2011, The Journal of clinical endocrinology and metabolism.

FH‐Pyrgos: a novel mutation in the promoter (−45delT) of the low‐density lipoprotein receptor gene associated with familial hypercholesterolemia

S. Humphries, P. Toutouzas, G. Dedoussis, 2003, Clinical genetics.

CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α

D. Isenberg, P. Beales, A. Radziszewska, 2018, Front. Immunol..

Identification of a novel regulatory region in the interleukin-6 gene promoter.

S. Humphries, D. Kelberman, A. Smith, 2008, Cytokine.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

M. Bitner-Glindzicz, E. Stupka, T. Jacques, 2014, Human molecular genetics.

Novel IL-6 haplotypes and disease association

S. Humphries, P. Woo, A. Gutiérrez, 2005, Genes and Immunity.

Mutation of SALL 2 causes recessive ocular coloboma in humans and mice

M. Bitner-Glindzicz, E. Stupka, T. Jacques, 2014 .

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

J. Crolla, J. Martinez-Barbera, M. Dattani, 2011, Human mutation.

Inborn errors of development

D. Kelberman, 2008 .

Mutations within Sox 2 / SOX 2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

R. Lovell-Badge, M. Bitner-Glindzicz, M. Dattani, 2006 .

M. Bitner-Glindzicz, T. Jacques, P. Khaw, 2011, Ophthalmology.

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

M. Dattani, P. Hindmarsh, P. Clayton, 2009, The Journal of clinical endocrinology and metabolism.

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

M. Dattani, N. Sebire, J. Jameson, 2007, The Journal of clinical endocrinology and metabolism.

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

M. Dattani, D. Gerrelli, H. Biebermann, 2008, Human molecular genetics.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

M. Gasperi, S. Drury, N. Lench, 2014, Gene.

Chromosome abnormalities and the genetics of congenital corneal opacification

J. Sowden, A. Mataftsi, L. Islam, 2011, Molecular vision.

Hypopituitarism Oddities: Congenital Causes

M. Dattani, D. Kelberman, 2007, Hormone Research in Paediatrics.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American Journal of Human Genetics.

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.

R. Lovell-Badge, Shuwen Huang, J. Crolla, 2008, The Journal of clinical endocrinology and metabolism.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

E. Stupka, M. Dattani, F. Alkuraya, 2013, Brain : a journal of neurology.

Genetic regulation of pituitary gland development in human and mouse.

R. Lovell-Badge, M. Dattani, I. Robinson, 2009, Endocrine reviews.

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

H. Williams, M. Dattani, C. Bacchelli, 2021, The Journal of clinical endocrinology and metabolism.

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

M. Brodsky, S. Q. Mehdi, M. Dattani, 2012, Human molecular genetics.

Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain

M. Dattani, C. Andoniadou, A. Burns, 2007, Development.

The Role of SOX2 in Hypogonadotropic Hypogonadism

M. Dattani, D. Kelberman, V. Tziaferi, 2008, Sexual Development.

MOPower: an R-shiny application for the simulation and power calculation of multi-omics studies

P. Beales, C. Bacchelli, G. Otto, 2021, bioRxiv.

Hypothalamic and pituitary development: novel insights into the aetiology.

M. Dattani, D. Kelberman, 2007, European journal of endocrinology.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

P. Beales, C. Bacchelli, P. Munot, 2019, Human Genome Variation.

Role of transcription factors in midline central nervous system and pituitary defects.

M. Dattani, D. Kelberman, 2009, Endocrine development.

Septo-Optic Dysplasia – Novel Insights into the Aetiology

M. Dattani, D. Kelberman, 2008, Hormone Research in Paediatrics.

Genetics of septo-optic dysplasia

M. Dattani, D. Kelberman, 2007, Pituitary.

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.

R. Lovell-Badge, M. Bitner-Glindzicz, M. Dattani, 2006, The Journal of clinical investigation.

Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

M. Dattani, C. Cowell, I. Arnhold, 2011, The Journal of clinical endocrinology and metabolism.

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism

M. Dattani, D. Kelberman, 2006, Annals of medicine.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

P. Beales, C. Bacchelli, P. Munot, 2019, Human Genome Variation.

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

M. Dattani, Luz Garcia-Alonso, G. Livera, 2022, JCI insight.

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

E. Haan, M. Bitner-Glindzicz, R. Winter, 2001, Human Genetics.

Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease

J. Sowden, L. Islam, K. Nischal, 2015, Human mutation.

Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe

M. Margaglione, S. Humphries, E. Hawe, 2004, Thrombosis and Haemostasis.

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

M. Dattani, H. Krude, S. Shalet, 2007, The Journal of clinical endocrinology and metabolism.

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)

M. Dattani, S. Rhodes, P. Swift, 2009, Clinical endocrinology.

Genetic screening in a large cohort of patients with congenital hypopituitarism; current knowledge and future directions

M. Dattani, M. McCabe, E. Webb, 2012 .

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

H. Williams, M. Dattani, I. Robinson, 2019, EBioMedicine.

Analysis of common IL-6 promoter SNP variants and the AnTn tract in humans and primates and effects on plasma IL-6 levels following coronary artery bypass graft surgery.

S. Humphries, M. Rockman, D. Brull, 2004, Biochimica et biophysica acta.

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism

M. Dattani, J. Saldanha, N. Canham, 2015, Clinical endocrinology.

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

M. Dattani, D. Gerrelli, C. Andoniadou, 2008, Disease Models & Mechanisms.

Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis

L. Wedderburn, E. Rosser, C. Deakin, 2022, Annals of the Rheumatic Diseases.

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies

D. Abraham, C. Denton, Andrey N. Gagunashvili, 2023, Archives of Dermatological Research.

Absence of SIX3 mutations in patients with congenital hypopituitarism

M. Dattani, D. Kelberman, C. Gaston-Massuet, 2009, American journal of medical genetics. Part A.

Mapping of a locus for autosomal dominant Hemifacial Microsomia

Sue Malcolm, Maria Bitner-Glindzicz, Sue Malcolm, 2000 .

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism

M. Dattani, C. Andoniadou, M. Rossi, 2015, Clinical endocrinology.

Candidate gene analysis of TGFA, EDN-1, and MTHFR, and the influence of maternal smoking in nonsyndromic cleft lip and palate.

N. Prescott, R. Winter, M. Lees, 1999 .

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American journal of human genetics.

Analysis of mouse models carrying the I 26 T and R 160 C substitutions in the transcriptional repressor HESX 1 as models for septo-optic dysplasia and hypopituitarism

Dianne Gerrelli, Massimo Signore, Juan Pedro Martinez-Barbera, 2022 .