Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion DisruptingNFIXandCACNA1A

(2013) Manjunath Nimmakayalu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Overgrowth syndromes

(2012) Orla M. Neylon et al.   CURRENT OPINION IN PEDIATRICS

A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case

(2012) Manuela Priolo et al.   GENE

R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update

(2012) Andrea Di Cristofori et al.   JOURNAL OF HEADACHE AND PAIN

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

(2012) Yuriko Yoneda et al.   JOURNAL OF HUMAN GENETICS

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

(2010) AM Lehman et al.   CLINICAL GENETICS

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

(2010) Maria C Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel microdeletion/microduplication syndrome of 19p13.13

(2010) Michelle Dolan et al.   GENETICS IN MEDICINE

Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine

(2010) Daniela Pietrobon   JOURNAL OF PHYSIOLOGY-LONDON

A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion

(2009) Philippe A. Lysy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms

(2009) Stéphane Auvin et al.   EPILEPSIA

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

(2009) R W Labrum et al.   JOURNAL OF MEDICAL GENETICS

Identification of CACNA1A large deletions in four patients with episodic ataxia

(2009) Florence Riant et al.   NEUROGENETICS