Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Andrew Oliver Mungo Wilkie

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

scientific article

'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care

scientific article (publication date: 2 August 2012)

6 Clinical genetics of syn- and brachydactyly: mutations in FGFR2 and HOXD13

article

A Genetic-Pathophysiological Framework for Craniosynostosis

scientific article

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

scientific article published on 26 May 2016

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

scientific article

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

scientific article

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay

scientific article published on February 1996

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

scientific article

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

scientific article published in April 2005

A gene map of congenital malformations

scientific article published on July 1994

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

scientific journal article

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

scientific article published on 07 April 2020

A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus

scientific article

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

scientific article published on 14 June 2007

A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

scientific article

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia

scientific article

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

scientific article

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

article

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

scientific article

A review of the molecular genetics of the human alpha-globin gene cluster

scientific article

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

scientific article (publication date: December 2001)

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

scientific article

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

scientific article published on 11 June 2020

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

scientific article published on 7 May 2008

ACTH receptor mutation in a girl with familial glucocorticoid deficiency

article

Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc ofFGFR2

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

scientific article published on 26 December 2015

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

scientific article

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster

article

Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation

scientific article published in June 2004

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations

scientific article

An unusually large (CA)n repeat in the region of divergence between subtelomeric alleles of human chromosome 16p.

scientific article published in May 1992

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

scientific journal article

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

scientific article

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

scientific article

Association of mutations in FLNA with craniosynostosis

scientific article published on 15 April 2015

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis

scientific article published on 25 November 2011

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

scientific article published in 2024

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

scientific article (publication date: April 2005)

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

scientific article

Burning down DEFECT11

article

Cancer drugs to treat birth defects

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

scientific article

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

scientific article

Cellular correlates of selfish spermatogonial selection.

scientific article published on 26 April 2016

Cellular evidence for selfish spermatogonial selection in aged human testes

scientific article published on 19 December 2013

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

scientific article

Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis

scientific article (publication date: October 1999)

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

scientific article

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

scientific article published in December 2006

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

scientific article

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

scientific article

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex

scientific article

Clinical genetics of craniosynostosis

scientific article published in December 2017

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS

scientific article

Comments on important genetic topics from papers in other journals: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

scientific article published in February 1992

Comments on important genetic topics from papers in other journals: Disease and evolution

scientific article published in January 1992

Comments on important genetic topics from papers in other journals: GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

scientific article published in February 1992

Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review

scientific article published on June 1993

Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

scientific article published on 01 April 1993

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

scientific article

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

scientific article published in April 1998

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

scientific article

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

scientific article published on 07 July 2020

Craniosynostosis

Craniosynostosis and related limb anomalies

scientific article

Craniosynostosis: genes and mechanisms ⬇️

scientific article published on January 1, 1997

Craniosynostosis: novel insights into pathogenesis and treatment

scientific article published on 01 April 1996

DNA testing for fragile X syndrome in schools for learning difficulties

scientific article

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

scientific article published on 21 March 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

scientific article

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

scientific article

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

scientific article

De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

scientific article published on April 1993

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

scientific article published in October 1989

Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms

scientific article published on September 1993

Diagnostic value of exome and whole genome sequencing in craniosynostosis

scientific article

Dicentric chromosome in the bone marrow of a child with megakaryoblastic leukaemia and Down's syndrome

scientific article

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

scientific article published in May 1996

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

scientific article published on 07 August 2018

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

scientific article

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

scientific article published in October 1997

Dominant inheritance of optic pits

scientific article published on 01 January 1998

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

scientific article (publication date: March 2000)

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

scientific article

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia

scientific article published in August 2009

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

scientific article published on 13 February 2019

Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes

scientific article

Enlarged Parietal Foramina

scientific article

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

scientific article

Epidemiology and genetics of craniosynostosis

scholarly article by Andrew Oliver Mungo Wilkie published 3 January 2000 in American Journal of Medical Genetics Part A

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

scientific article published in The Lancet

Errors in human gene mapping 11.

scientific article published in February 1993

Ethical review of research into rare genetic disorders

scientific article published in July 2004

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

article

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

scientific article published on 25 August 2021

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

scientific article

Exclusive paternal origin of new mutations in Apert syndrome

scientific article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

article

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

scientific article

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis

scientific article published in May 2005

FGFs, their receptors, and human limb malformations: clinical and molecular correlations

scientific article

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome

scientific article published on 15 October 2020

Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2.

scientific article published in September 1997

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link

scientific article

Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism

scientific article published on 17 April 2007

Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes

scientific article

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

scientific article

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

scientific article published on 01 August 2006

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

scientific article

Functional analysis of natural mutations in two TWIST protein motifs

scientific article published in June 2005

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

scientific article (publication date: April 2000)

Functions of fibroblast growth factors and their receptors

scientific article

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

scientific article

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

scientific article

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

scientific article published on 6 April 2017

Gene Therapy: A Handbook for Physicians

scientific article published in February 1996

Gene Therapy: Application of Molecular Biology

scientific article published in July 1992

Genetic Engineering. Principles and Methods

scientific article published in November 1995

Genetic aspects of birth defects: new understandings of old problems

scientific article published on July 2007

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

scientific article

Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin

scientific article published on 01 July 1997

Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)

article

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

scientific article published on 7 May 2009

Genetics of craniofacial development and malformation

scientific article

Genetics of disease

scientific article published on 01 June 1996

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

scientific article

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes

scientific article

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas ⬇️

scientific article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders

scientific article published on 7 July 2017

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

scientific article

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

scientific article published on 27 November 2017

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

scientific article

Hearing loss in a mouse model of Muenke syndrome

scientific article

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects ⬇️

scientific article

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

scientific article

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

scientific article published on 12 October 2012

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

scientific article published on 09 May 2016

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

scientific article published on 26 July 2017

Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome

scientific article published on 04 May 2020

Implications of a Vertex Bulge following Modified Strip Craniectomy for Sagittal Synostosis

scientific article published on 01 July 2008

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

scientific article

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

scientific article

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

scientific article published on 13 July 2014

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia

scientific article

Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation

scientific article published on 01 June 1997

Laband syndrome. Report of two cases, review of the literature, and identification of additional manifestations

scientific article published on July 1994

Letters to the Editor

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

scientific article published on 6 June 2001

Localisation of human alpha globin to 16p13.3----pter

scientific article

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

scientific article (publication date: August 1994)

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

scientific article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

scientific article

Many faces of SMCHD1.

scientific article

Medical genetics: advances in brief

Medical genetics: advances in brief: Amplification of a gene encoding a p53-associated protein in human sarcomas

scientific article published in October 1992

Medical genetics: advances in brief: Cloning of cDNAs for Fanconi's anaemia by functional complementation

scientific article published in September 1992

Medical genetics: advances in brief: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction

scientific article

Medical genetics: advances in brief: Expression of members of the putative olfactory receptor gene family in mammalian germ cells

scientific article published in June 1992

Medical genetics: advances in brief: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

scientific article published in September 1993

Medical genetics: advances in brief: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

scientific article published in January 1994

Medical genetics: advances in brief: Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1.

scientific article

Medical genetics: advances in brief: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.

scientific article published in February 1994

Medical genetics: advances in brief: Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats

scientific article published in November 1993

Medical genetics: advances in brief: Levels of naturally occuring DNA polymorphism correlate with recombination rates in D melanogaster

scientific article published in August 1992

Medical genetics: advances in brief: Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

scientific article published in November 1992

Medical genetics: advances in brief: Medical genetics: advances in brief

scientific article published in July 1993

Medical genetics: advances in brief: Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis

scientific article published in December 1992

Medical genetics: advances in brief: Minisatellite repeat coding as a digital approach to DNA typing

scientific article published in March 1992

Medical genetics: advances in brief: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

scientific article

Medical genetics: advances in brief: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

scientific article published in June 1993

Medical genetics: advances in brief: Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

scientific article published in May 1993

Medical genetics: advances in brief: Replication structure of the human β-globin gene domain

scientific article published in March 1994

Medical genetics: advances in brief: The C elegans genome sequencing project: a beginning

scientific article published in July 1992

Medical genetics: advances in brief: The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

scientific article published in May 1993

Megalocornea, developmental retardation and dysmorphic features: two further patients.

scientific article published in April 1994

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

scientific article

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

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

scientific article

Missing heritability: paternal age effect mutations and selfish spermatogonia

scientific article published on 01 August 2010

Molecular Genetic Medicine

scientific article published in July 1992

Molecular Genetic Medicine

scientific article published in October 1994

Molecular Genetic Medicine

scientific article published in May 1995

Molecular Genetic Medicine

scientific article

Molecular Genetics for the Clinician

scientific article published in August 1993

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

scientific article published on 01 June 2005

Monozygotic twins discordant for frontonasal malformation

scientific article

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

article

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda

scientific article published on 01 July 2001

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

scientific article published on 27 January 2013

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

scientific article

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

scientific article

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

scientific journal article

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

scientific article

New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation ⬇️

scientific article published on March 1, 2011

New insights into craniofacial malformations

scientific article

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

scientific article published on 12 September 2012

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

scientific article published on 15 August 2013

Nonsense-mediated decay and the molecular pathogenesis of mutations inSALL1 andGLI3

OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia

scientific article

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

scientific article

P9 Functions of ALX4 and MSX2 in ossification of the skull vault

scientific article published on 01 November 2002

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

article

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease ⬇️

scientific article published on February 10, 2012

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

scientific article (publication date: March 2000)

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

scientific article

Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case

scientific article published on 01 April 1997

Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2

scientific article published on 01 April 2000

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

scientific article

Pitfalls in the phylogenomic evaluation of human disease-causing mutations

scientific article published on 24 March 2009

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

scientific article published on 11 January 2008

Posterior lenticonus: clinical patterns and genetics

scientific article

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders

scientific article published in May 2006

Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

article

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

scientific article published on 19 July 2010

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

scientific article

Pure de novo partial trisomy 6p in a girl with craniosynostosis

article by Konstantinos Varvagiannis et al published February 2013 in American Journal of Medical Genetics

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

scientific article

Rab23 is required for cardiac progenitor cell differentiation and positively-regulates Wnt11/AP-1 signalling in zebrafish

scientific article published on 16 November 2012

Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features

scientific article

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

scientific article published in February 2009

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

scientific article

Recessive omodysplasia: five new cases and review of the literature

scientific article published on 18 October 2003

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

scientific article

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review

scientific article published on June 2009

Restrict genetic susceptibility tests

scientific article published in September 1998

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

scientific article published on 05 June 2020

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families

scientific article

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

scientific article published on 15 September 2009

Selective loss of function variants in IL6ST cause Hyper-IgE Syndrome with distinct impairments of T cell phenotype and function

scientific article published on 11 October 2018

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

scientific article published on 24 October 2018

Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men

scientific article

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome

scientific article

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics

scientific article published on 10 December 2003

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

article

Syndrome of the month

scientific article published in October 1994

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

scientific article published on 01 March 2021

TCF12 microdeletion in a 72-year-old woman with intellectual disability

scientific article

The Chromosome

scientific article published in April 1994

The Drosophila homologue of MEGF8 is essential for early development

scientific article

The Gene for Spondyloepiphyseal Dysplasia (SEDL) Maps to Xp22 between DXS16 and DXS92

article

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The alpha-thalassemias

scientific article published on January 1990

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

scientific article published on February 1995

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself

scientific article published on 26 March 2013

The genetics of mental retardation

scientific article

The molecular basis of genetic dominance

scientific article

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance

scientific article published on October 1991

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males

scientific article

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

scientific article published in 2024

Toward a cellular model of microvillus inclusion disease

article published in 2010

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

scientific article published in February 2018

Update on a child with bilateral posterior lenticonus

article

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

scientific article published on 8 February 2016

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

scientific article

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

scientific article

Why study human limb malformations?

scientific article published in January 2003

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males

scientific article

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

scientific article

Paulina is supported by:

About Paulina

Help