Recognizable phenotypes associated with intracranial calcification

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

(2012) Beverley H Anderson et al.   NATURE GENETICS

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

(2011) JOHN H LIVINGSTON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

(2011) David C. Goldstone et al.   NATURE

Genetic Assessment of Cortical Malformations

(2011) U. Hehr et al.   NEUROPEDIATRICS

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

(2011) J. Livingston et al.   NEUROPEDIATRICS

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New subtype of familial intracranial calcification in a mother and two children

(2010) Mahmoud F. Elsaid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

(2010) Nadia Bahi-Buisson et al.   BRAIN

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene

(2010) ROSALIND J JEFFERSON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Infantile neurological Degos disease

(2010) Tong Hong Yeo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

(2009) Mohammad R. Abdollahi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

(2009) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients

(2009) Manuele Mine et al.   ANNALS OF NEUROLOGY

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Degos disease: a new simulator of non-accidental injury

(2009) CELIA MOSS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

(2009) Marco Henneke et al.   NATURE GENETICS

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype

(2008) T.A. Briggs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome

(2008) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A