Filippi Syndrome Latest Advances

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Journal: bioRxiv : the preprint server for biology

Published: July 14, 2025

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Journal: bioRxiv : the preprint server for biology

Published: July 14, 2025

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Journal: American journal of medical genetics. Part A

Published: January 28, 2024

Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect.

Journal: American journal of medical genetics. Part A

Published: November 29, 2021

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Journal: Cold Spring Harbor molecular case studies

Published: September 25, 2021

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Journal: American journal of medical genetics. Part A

Published: December 17, 2020

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

Journal: Clinical dysmorphology

Published: March 29, 2019

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

Journal: Clinical genetics

Published: October 06, 2017

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Journal: European journal of human genetics : EJHG

Published: July 02, 2015

Filippi Syndrome: Report of a Rare Case.

Journal: Journal of clinical and diagnostic research : JCDR

Published: April 20, 2015

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Journal: American journal of human genetics

Published: July 25, 2014

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.

Journal: American journal of medical genetics. Part A

Published: September 29, 2013

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Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect.

Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L-related Filippi syndrome to include an adolescent male with normal intellect.

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

CKAP2L mutation confirms the diagnosis of Filippi syndrome.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Filippi Syndrome: Report of a Rare Case.

Filippi Syndrome: Report of a Rare Case.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.