Disease: Cone rod dystrophy amelogenesis imperfecta
- A case of amelogenesis imperfecta, cleft lip and palate and polycystic kidney disease
- A new familial case of Jalili syndrome caused by a novel mutation in CNNM4
- A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome
- A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
- A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome
- An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta
- Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model
- Co-occurrence of Jalili syndrome and muscular overgrowth
- Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of <em>CNNM4</em> revealed by pupillometry and electrophysiologic investigations
- Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations
- Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs
- Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
- Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene
- Dentofacial manifestations in a child with Jalili syndrome
- Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
- Features, genetics and their correlation in Jalili syndrome: a systematic review
- Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in <em>PEX1</em>
- Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate
- Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1
- Intra-familial phenotype variability in patients with Jalili syndrome
- Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent
- Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta
- Macular dystrophy in Heimler syndrome
- Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
- Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
- Novel CNNM4 variant and clinical features of Jalili syndrome
- Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
- Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome
- Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With <em>PEX1</em> Variants
- Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4
- Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene
- The emerging roles and therapeutic potential of cyclin M/CorC family of Mg<sup>2+</sup> transporters
- Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings