4.4 Review

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

A new frameshift mutation in L1CAM producing X-linked hydrocephalus

Weiqi Kong et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2020)

Article Biotechnology & Applied Microbiology

A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus

Dewei Guo et al.

JOURNAL OF GENE MEDICINE (2020)

Article Clinical Neurology

Fetal therapy for congenital hydrocephalus-where we came from and where we are going

Jose L. Peiro et al.

CHILDS NERVOUS SYSTEM (2020)

Article Obstetrics & Gynecology

Ventriculo-amniotic shunting for severe fetal ventriculomegaly

Magdalena Litwinska et al.

ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2019)

Article Clinical Neurology

Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

Esra Isik et al.

CLINICAL NEUROLOGY AND NEUROSURGERY (2018)

Article Obstetrics & Gynecology

Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene

I. Ochando et al.

JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2016)

Article Biochemistry & Molecular Biology

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Mirella Vinci et al.

GENES & GENOMICS (2016)

Article Biochemistry & Molecular Biology

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Rosangela Ferese et al.

JOURNAL OF MOLECULAR NEUROSCIENCE (2016)

Article Pediatrics

Three cases with L1 syndrome and two novel mutations in the L1CAM gene

Rosario Marin et al.

EUROPEAN JOURNAL OF PEDIATRICS (2015)

Article Genetics & Heredity

Hydrocephalus With Hirschsprung Disease: Severe End of X-linked Hydrocephalus Spectrum

Toshiki Takenouchi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Genetics & Heredity

An Updated and Upgraded L1CAM Mutation Database

Yvonne J. Vos et al.

HUMAN MUTATION (2010)

Article Genetics & Heredity

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Yvonne J. Vos et al.

JOURNAL OF MEDICAL GENETICS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Pediatrics

L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease

Sha-Ron Jackson et al.

PEDIATRIC SURGERY INTERNATIONAL (2009)

Article Clinical Neurology

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus

Yonehiro Kanemura et al.

JOURNAL OF NEUROSURGERY (2006)

Article Genetics & Heredity

Expanding the phenotypic spectrum of L1CAM-associated disease

L Basel-Vanagaite et al.

CLINICAL GENETICS (2006)

Article Genetics & Heredity

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM

N Okamoto et al.

JOURNAL OF HUMAN GENETICS (2004)