A review of 18p deletions

Whole arm deletions of 18p: Medical and developmental effects

(2015) Courtney Sebold et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

(2015) Richard J. L. F. Lemmers et al.   HUMAN MUTATION

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

(2014) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

(2014) Kenneth A. Myers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly inTwsg1mutant mice

(2014) Charles J. Billington et al.   Disease Models & Mechanisms

Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome

(2014) Aikaterini I. Liakou et al.   JOURNAL OF DERMATOLOGY

Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease

(2013) Hilda Tateossian et al.   HUMAN MOLECULAR GENETICS

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

(2013) Satya R. Vemula et al.   HUMAN MOLECULAR GENETICS

Associations between PTPN2 polymorphisms and susceptibility to ulcerative colitis and Crohn’s disease: a meta-analysis

(2013) Ji-Xiang Zhang et al.   INFLAMMATION RESEARCH

Germline deletion of Cetn1 causes infertility in male mice

(2013) P. Avasthi et al.   JOURNAL OF CELL SCIENCE

Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes

(2013) Christina Tatsi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetics of dystonia: What's known? What's new? What's next?

(2013) Katja Lohmann et al.   MOVEMENT DISORDERS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome

(2013) Federica Esposito et al.   PARKINSONISM & RELATED DISORDERS

GWAS of Dental Caries Patterns in the Permanent Dentition

(2012) J.R. Shaffer et al.   JOURNAL OF DENTAL RESEARCH

Mutations in GNAL cause primary torsion dystonia

(2012) Tania Fuchs et al.   NATURE GENETICS

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population

(2012) Yukinori Okada et al.   NATURE GENETICS

PTPN2 Gene Variants Are Associated with Susceptibility to Both Crohn's Disease and Ulcerative Colitis Supporting a Common Genetic Disease Background

(2012) Jürgen Glas et al.   PLoS One

Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18

(2011) Charles André Carvalho et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

Lama1 mutations lead to vitreoretinal blood vessel formation, persistence of fetal vasculature, and epiretinal membrane formation in mice

(2011) Malia M Edwards et al.   BMC DEVELOPMENTAL BIOLOGY

Monosomy 18p and immunologic dysfunction

(2011) Robin R. McGoey et al.   CLINICAL DYSMORPHOLOGY

18p monosomy with GH-deficiency and empty sella: good response to GH-treatment

(2010) E. Schober et al.   CLINICAL GENETICS

Rheumatoid arthritis in the 46, XX, 18p- syndrome

(2010) Sara C. Finley et al.   CLINICAL GENETICS

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits

(2010) Maria Paola Recalcati et al.   European Journal of Medical Genetics

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18

(2010) Keiko Koide et al.   HUMAN GENETICS

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

(2010) Jill A. Rosenfeld et al.   HUMAN GENETICS

Mutations inLama1Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

(2010) Malia M. Edwards et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly☆

(2010) Emily F. Kauvar et al.   MOLECULAR GENETICS AND METABOLISM

Myoclonus-dystonia in 18p deletion syndrome

(2010) Markus C. Kowarik et al.   MOVEMENT DISORDERS

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

Responsiveness of different rating instruments in spinocerebellar ataxia patients

(2010) T. Schmitz-Hubsch et al.   NEUROLOGY

Increased Susceptibility to Dextran Sulfate Sodium Induced Colitis in the T Cell Protein Tyrosine Phosphatase Heterozygous Mouse

(2010) Syed-Wajahat Hassan et al.   PLoS One

Narrowing critical regions and determining penetrance for selected 18q- phenotypes

(2009) Jannine D. Cody et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High resolution genomic analysis of 18q− using oligo-microarray comparative genomic hybridization (aCGH)

(2009) Patricia L. Heard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion

(2009) Carla Graziadio et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Characteristics of dystonia in the 18p deletion syndrome, including a new case

(2009) Anna G. Postma et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

(2008) Marnie E Blewitt et al.   NATURE GENETICS

Monosomy 18p

(2008) Catherine Turleau   Orphanet Journal of Rare Diseases