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A benign congenital myopathy in an inbred Samaritan family

scientific article published on 01 July 2006

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

artículo científico publicado en 2012

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

artículo científico publicado en 2010

A new autosomal recessive syndrome with Zellweger-like manifestations.

artículo científico publicado en 2003

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

artículo científico publicado en 2011

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

artículo científico publicado en 2014

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

artículo científico publicado en 2007

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome

artículo científico publicado en 2012

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation

artículo científico publicado en 2014

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

artículo científico publicado en 2017

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

artículo científico publicado en 2014

Acute intermittent porphyria, Rasmussen encephalitis, or both?

artículo científico publicado en 2007

Additional EFNB1 mutations in craniofrontonasal syndrome.

artículo científico publicado en 2008

Agenesis of the corpus callosum. An autopsy study in fetuses

artículo científico publicado en 2015

Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero

artículo científico publicado en 2016

Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders

artículo científico publicado en 2003

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

artículo científico publicado en 2003

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep

artículo científico publicado en 2015

Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.

artículo científico publicado en 2011

Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes

artículo científico publicado en 2005

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

scientific article published on 04 March 2020

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

artículo científico publicado en 2020

Brain white matter abnormalities associated with copy number variants

artículo científico publicado en 2019

CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping

artículo científico publicado en 2000

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

artículo científico publicado en 2005

Can syndromic macrocephaly be diagnosed in utero? ⬇️

artículo científico publicado el 1 de enero de 2011

Candidate gene polymorphism in cardiovascular disease: the BIP cohort.

artículo científico publicado en 2006

Central 22q11.2 deletions

artículo científico publicado en 2014

Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000

artículo científico publicado en 2005

Clinical phenotypes of infantile onset CACNA1A-related disorder

artículo científico publicado en 2020

Clinical presentations of mitochondrial cardiomyopathies

artículo científico publicado en 2004

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

artículo científico publicado en 2013

Congenital Mirror Movements Associated With Brain Malformations

artículo científico publicado en 2021

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation

artículo científico publicado en 2010

Congenital cytomegalovirus infection presenting as an apparent neurodegenerative disorder

artículo científico publicado en 2002

Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene

artículo científico publicado en 2006

Copy number variations in cryptogenic cerebral palsy

artículo científico publicado en 2015

Costeff syndrome: clinical features and natural history

scientific article published on 09 September 2014

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination

artículo científico publicado en 2015

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

artículo científico publicado en 2018

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

artículo científico publicado en 2015

Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.

artículo científico publicado en 2003

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

artículo científico publicado en 2013

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region

scientific article published on 14 May 2012

Developmental outcome of children with enlargement of the cisterna magna identified in utero

artículo científico publicado en 2009

Developmental outcome of fetal macrocephaly and associated syndromes

artículo científico publicado en 2010

Developmental outcome of isolated fetal macrocephaly

artículo científico publicado en 2010

Developmental outcome of isolated fetal microcephaly

artículo científico publicado en 2010

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

artículo científico publicado en 2014

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

artículo científico publicado en 2009

Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?

artículo científico publicado en 2011

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero

artículo científico publicado en 2012

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt

artículo científico publicado en 2013

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

artículo científico publicado en 2014

Epilepsy and mental retardation limited to females: an under-recognized disorder

artículo científico publicado en 2008

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

artículo científico publicado en 2020

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

scientific article published on 01 July 2018

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

artículo científico publicado en 2014

Familial Brain Periventricular Pseudocysts

artículo científico publicado en 2016

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

artículo científico publicado en 2019

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome

artículo científico publicado en 2004

Familial leukoencephalopathy with slowly progressive dystonia and ataxia

artículo científico publicado en 2008

Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder

scientific article published on 01 June 2000

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

artículo científico publicado en 2015

Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy.

artículo científico publicado en 2004

Familial optic atrophy with white matter changes

artículo científico publicado en 2003

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother

artículo científico publicado en 2010

Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis

artículo científico publicado en 2006

Febrile convulsions, ataxia, developmental delay, and obesity: a new syndrome?

artículo científico publicado en 2001

Fetal Central Nervous System: MR Imaging versus Dedicated US—Need for Prospective, Blind, Comparative Studies [letter]

Fetal brain imaging: a comparison between magnetic resonance imaging and dedicated neurosonography

scientific article published on 01 April 2004

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings.

artículo científico publicado en 2003

Fetal optic nerve sheath measurement as a non‐invasive tool for assessment of increased intracranial pressure ⬇️

artículo científico publicado el 11 de noviembre de 2011

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

artículo científico publicado en 2003

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis

artículo científico publicado en 2019

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

artículo científico publicado en 2015

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients

artículo científico publicado en 2004

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

artículo científico publicado en 2020

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population

artículo científico publicado en 2011

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

artículo científico publicado en 2012

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

artículo científico publicado en 2012

Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction

artículo científico publicado el 11 de octubre de 2011

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

artículo científico publicado en 2010

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

artículo científico publicado en 2013

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

artículo científico publicado en 2007

Imaging of fetal cytomegalovirus infection

artículo científico publicado en 2010

Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene

artículo científico publicado en 2019

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

artículo científico publicado en 2007

Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort

artículo científico publicado en 2005

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results

artículo científico publicado en 2018

Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome

scientific article published on 12 January 2020

Israeli children with autism spectrum disorder are not macrocephalic

artículo científico publicado en 2011

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence

scientific article published on 31 December 2010

Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center

artículo científico publicado en 2004

Lacosamide for SCN2A-related intractable neonatal and infantile seizures

artículo científico publicado en 2018

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

artículo científico publicado en 2010

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

artículo científico publicado en 2002

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

artículo científico publicado en 2012

Metabolic stroke in a patient with bi-allelic OPA1 mutations

scientific article published on 10 April 2019

Microarray findings in pregnancies with oligohydramnios - a retrospective cohort study and literature review

scientific article published on 07 December 2019

Microcephaly diagnosed during pregnancy

artículo científico publicado en 2010

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene

artículo científico publicado en 2005

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder

artículo científico publicado en 2015

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

scientific article published on 03 November 2011

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach

scientific article published on 25 May 2018

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

article by Peter Bauer et al published 1 February 2012 in Neurogenetics

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy ⬇️

artículo científico publicado el 8 de octubre de 2010

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

artículo científico publicado en 2010

Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination

artículo científico publicado en 2014

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

artículo científico publicado en 2020

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

artículo científico publicado en 2009

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

artículo científico publicado en 2011

Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene

artículo científico publicado en 2012

Neurologic presentations of mitochondrial disorders

artículo científico publicado en 2000

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

artículo científico publicado en 2001

Neuropsychological follow-up at school age of children with asymmetric ventricles or unilateral ventriculomegaly identified in utero

artículo científico publicado en 2014

Non-visualization of the cavum septi pellucidi is not synonymous with agenesis of the corpus callosum

artículo científico publicado en 2012

Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures

artículo científico publicado en 2006

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome ⬇️

artículo científico publicado el 7 de mayo de 2011

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

artículo científico publicado en 2015

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

artículo científico publicado en 2014

Periventricular pseudocysts of non-infectious origin: prenatal associated findings and prognostic factors

scientific article published on 11 April 2020

Photoreceptor Guanylate Cyclase () Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca-Dependent Cyclic GMP Synthesis

scholarly article by Hanna Wimberg published in January 2018

Prediction of microcephaly at birth using three reference ranges for fetal head circumference: can we improve prenatal diagnosis?

artículo científico publicado en 2015

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations

artículo científico publicado en 2018

Prenatal brain disruption in molybdenum cofactor deficiency

artículo científico publicado en 2011

Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population

scientific article published on 01 October 2003

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

artículo científico publicado en 2003

Procedure-to-delivery interval after late amniocentesis and the need for routine antenatal corticosteroids

artículo científico publicado en 2020

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes

artículo científico publicado en 2018

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

artículo científico publicado en 2003

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

artículo científico publicado en 2016

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population

artículo científico publicado en 2007

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

artículo científico publicado en 2017

Recurrent absence status epilepticus (spike-and-wave stupor) associated with lamotrigine therapy.

artículo científico publicado en 2006

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia

scientific article published on 05 June 2019

Reply to: The many faces of TUBB4A mutations

artículo científico publicado en 2014

Reply: To PMID 23460194.

artículo científico publicado en 2013

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

artículo científico publicado en 2012

Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency

artículo científico publicado en 2002

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

artículo científico publicado en 2012

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation

artículo científico publicado en 2017

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

artículo científico publicado en 2008

Should autistic children be evaluated for mitochondrial disorders?

artículo científico publicado en 2004

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

article

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

scientific article published on 01 March 1999

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

artículo científico publicado en 2020

Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency

artículo científico publicado en 2020

Sweet's syndrome in a patient with compound heterozygous mutations in the Mediterranean fever gene (MEFV).

artículo científico publicado en 2015

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

artículo científico publicado en 2013

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

artículo científico publicado en 2011

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

artículo científico publicado en 2013

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis

artículo científico publicado en 2016

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome

scientific article published on 01 September 2018

The fetal cerebellum. Pitfalls in diagnosis and management

artículo científico publicado en 2009

The fetal vermis, pons and brainstem: normal longitudinal development as shown by dedicated neurosonography

artículo científico publicado en 2013

The importance of prenatal neuroimaging in prediction of developmental outcome of fetuses infected with cytomegalovirus

artículo científico publicado en 2010

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

artículo científico publicado en 2016

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome

artículo científico publicado en 2015

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

artículo científico publicado en 2015

Thick fetal corpus callosum: an ominous sign?

artículo científico publicado en 2009

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter

artículo científico publicado en 2018

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter

artículo científico publicado en 2018

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

artículo científico publicado en 2017

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

artículo científico publicado en 2016

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

artículo científico publicado en 2014

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

artículo científico publicado en 2017

White matter involvement in mitochondrial diseases

artículo científico publicado en 2004

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

artículo científico publicado en 2008

[Enlargement of the fetal posterior fossa--what is the significance?]

scientific article published on 01 November 2008

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