Primordial dwarfism: overview of clinical and genetic aspects

Prenatal Diagnosis of Seckel Syndrome on 3-Dimensional Sonography and Magnetic Resonance Imaging

(2017) Raffaele Napolitano et al.   JOURNAL OF ULTRASOUND IN MEDICINE

Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum

(2014) Fatma Abdelhedi et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

(2014) Zehra Agha et al.   GENE

Genomic analysis of primordial dwarfism reveals novel disease genes

(2014) R. Shaheen et al.   GENOME RESEARCH

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

(2014) Ghayda M. Mirzaa et al.   HUMAN GENETICS

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

(2014) Felicity Payne et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutation inPLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

(2014) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Successful outcome of allogeneic stem cell transplantation in Seckel syndrome

(2014) Luiz Guilherme Darrigo et al.   PEDIATRIC TRANSPLANTATION

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I

(2014) F. Jafarifar et al.   RNA

Optimizing the definition of intrauterine growth restriction: the multicenter prospective PORTO Study

(2013) Julia Unterscheider et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

The ORC/Cdc6/MCM2–7 complex, a new power player for regulated helicase loading

(2013) Alberto Riera et al.   CELL CYCLE

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome

(2013) Beom Hee Lee et al.   JOURNAL OF HUMAN GENETICS

Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency

(2013) Maria Felicia Faienza et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Small Molecule Inhibition of p38 MAP Kinase Extends the Replicative Life Span of Human ATR-Seckel Syndrome Fibroblasts

(2013) Hannah S. E. Tivey et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

(2013) Sule Unal et al.   PEDIATRIC BLOOD & CANCER

Screening for Cerebrovascular Disease in Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): An Evidence-Based Proposal

(2013) Luke D. Perry et al.   PEDIATRIC NEUROLOGY

Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

(2013) Tom Stiff et al.   PLoS Genetics

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

(2012) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

(2012) Charles Coutton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

(2012) Michael B. Bober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

(2012) Sonja A. de Munnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The neurologic findings in Taybi-Linder syndrome (MOPD I/III): Case report and review of the literature

(2012) Melinda J. Pierce et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)

(2012) Esra Kılıç et al.   EUROPEAN JOURNAL OF PEDIATRICS

Epigenetic and genetic diagnosis of Silver–Russell syndrome

(2012) Thomas Eggermann et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication

(2012) M. Hossain et al.   GENES & DEVELOPMENT

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound HeterozygousATRMutations

(2012) Houda Mokrani-Benhelli et al.   HUMAN MUTATION

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

(2012) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome

(2012) Renuka P. Dias et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

(2012) Eva Müller et al.   PLoS One

Dormant Origins, the Licensing Checkpoint, and the Response to Replicative Stresses

(2012) D. McIntosh et al.   Cold Spring Harbor Perspectives in Biology

Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

(2012) Rebecca E. McIntyre et al.   PLoS Genetics

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

(2012) Tomoo Ogi et al.   PLoS Genetics

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

(2011) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome

(2011) Adriano Bonaldi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development

(2011) Irène Netchine et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

(2011) R Nagy et al.   CLINICAL GENETICS

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes

(2011) J Demars et al.   CLINICAL GENETICS

Mechanisms Limiting Body Growth in Mammals

(2011) Julian C. Lui et al.   ENDOCRINE REVIEWS

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome

(2011) Niels H. Birkebæk et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

National, regional, and worldwide estimates of stillbirth rates in 2009 with trends since 1995: a systematic analysis

(2011) Simon Cousens et al.   LANCET

Stillbirths: Where? When? Why? How to make the data count?

(2011) Joy E Lawn et al.   LANCET

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

(2010) Thomas Eggermann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7

(2010) Zornitza Stark et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome

(2010) Shin-Yu Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype

(2010) Michael B. Bober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

(2010) M. L. Ramírez-Dueñas et al.   CLINICAL GENETICS

Coordinated postnatal down-regulation of multiple growth-promoting genes: evidence for a genetic program limiting organ growth

(2010) Julian C. Lui et al.   FASEB JOURNAL

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

ATR contributes to telomere maintenance in human cells

(2010) Gaëlle Pennarun et al.   NUCLEIC ACIDS RESEARCH

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

(2009) Shin-Ichi Horike et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

(2009) Sabrina Spengler et al.   European Journal of Medical Genetics

Seckel syndrome with chromosomal 18 deletion

(2009) Inusha Panigrahi et al.   INDIAN JOURNAL OF PEDIATRICS

A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response

(2009) Zoran S. Gucev et al.   JOURNAL OF GENETICS

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome

(2009) S. Spengler et al.   JOURNAL OF MEDICAL GENETICS

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

(2009) S. Bruce et al.   JOURNAL OF MEDICAL GENETICS

Seckel syndrome and moyamoya

(2009) Patrick J. Codd et al.   Journal of Neurosurgery-Pediatrics

The control of size in animals: insights from selector genes

(2008) Michael A. Crickmore et al.   BIOESSAYS

Successful reduced-intensity bone marrow transplantation in a patient with bone marrow failure associated with Seckel syndrome

(2008) Melissa Rayburg et al.   BRITISH JOURNAL OF HAEMATOLOGY

Etiology of Failure to Thrive in Infants and Toddlers Referred to a Pediatric Endocrinology Outpatient Clinic

(2008) Maala Daniel et al.   CLINICAL PEDIATRICS

Perinatal Findings of Seckel Syndrome: A Case Report of a Fetus Showing Primordial Dwarfism and Severe Microcephaly

(2008) Keiko Miyachi Takikawa et al.   FETAL DIAGNOSIS AND THERAPY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE