Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near-exclusive paternal or...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Goriely, A, Lord, H, Lim, J, Johnson, D, Lester, T, Firth, H, Wilkie, A
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2010

Eitemau Tebyg

Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
gan: Sharma, V, et al.
Cyhoeddwyd: (2012)

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
gan: Fenwick, A, et al.
Cyhoeddwyd: (2014)

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
gan: de Ravel, T, et al.
Cyhoeddwyd: (2005)

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome
gan: Jiayan Fan, et al.
Cyhoeddwyd: (2018-05-01)

Crouzon syndrome
gan: Neha Rajappa, et al.
Cyhoeddwyd: (2013-01-01)

Crouzon Syndrome with Hydrocephalus
gan: Saad Javed, et al.
Cyhoeddwyd: (2023-03-01)

Familial Crouzon syndrome
gan: Y Samatha, et al.
Cyhoeddwyd: (2010-01-01)

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
gan: Robertson, S, et al.
Cyhoeddwyd: (2006)

Gonadal mosaicism and non-invasive prenatal diagnosis for "reassurance" in sporadic paternal age effect (PAE) disorders
gan: Goriely, A, et al.
Cyhoeddwyd: (2017)

Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders
gan: Wilkie, AOM, et al.
Cyhoeddwyd: (2017)

Crouzon Syndrome: Clinical case
gan: Nikolai I. Zryachkin, et al.
Cyhoeddwyd: (2019-04-01)

Crouzon syndrome and the eye: An overview
gan: Kasturi Bhattacharjee, et al.
Cyhoeddwyd: (2022-01-01)

Clinical characteristics of Crouzon syndrome
gan: L Balyen, et al.
Cyhoeddwyd: (2017-01-01)

Airway management of a child of Crouzon syndrome with midface distractor in situ
gan: Kruthika S. Manoharan, et al.
Cyhoeddwyd: (2025-01-01)

Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome
gan: Federica Tiberio, et al.
Cyhoeddwyd: (2025-03-01)

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
gan: Karen Rymer, et al.
Cyhoeddwyd: (2019-06-01)

Changes in <em>FGFR2</em> amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus
gan: Caroline Apra, et al.
Cyhoeddwyd: (2016-10-01)

Crouzon syndrome: Genetic and intervention review
gan: N.M. Al-Namnam, et al.
Cyhoeddwyd: (2019-01-01)

Crouzon syndrome: An unwanted family heirloom
gan: Neeharika P Shah, et al.
Cyhoeddwyd: (2024-01-01)

Crouzon Syndrome: a case report
gan: Morrison Stuart, et al.
Cyhoeddwyd: (2010-12-01)

Crouzon Syndrome: a Comprehensive Review
gan: Kyprianou Chrystalla, et al.
Cyhoeddwyd: (2018-03-01)

Crouzon Syndrome: Report in a Family
gan: Dhanya S. Kumar, et al.
Cyhoeddwyd: (2016-01-01)

Crouzons syndrome: A case report
gan: Arathi R, et al.
Cyhoeddwyd: (2007-05-01)

Perioperative management of a child with Crouzon syndrome with bilateral partial nasal obstruction
gan: Ramamani Mariappan, et al.
Cyhoeddwyd: (2015-08-01)

Germline and gonosomal mosaicism in the ATR-X syndrome.
gan: Bachoo, S, et al.
Cyhoeddwyd: (1999)

FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome
gan: Yidi Wang, et al.
Cyhoeddwyd: (2022-10-01)

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
gan: Rannan-Eliya, S, et al.
Cyhoeddwyd: (2004)

Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report
gan: Ji Yang, et al.
Cyhoeddwyd: (2019-10-01)

Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing
gan: Congling Dai, et al.
Cyhoeddwyd: (2020-09-01)

Crouzon's syndrome: A case report and review
gan: Candice Jacinta Antao, et al.
Cyhoeddwyd: (2018-01-01)

Bronchial asthma, recurrent croup and bronchiectasis in a child with Crouzon syndrome: clinical observation
gan: D. Y. Ovsyannikov, et al.
Cyhoeddwyd: (2014-12-01)

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
gan: Twigg, SR, et al.
Cyhoeddwyd: (2006)

Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse
gan: Kevin K. L. Lee, et al.
Cyhoeddwyd: (2018-11-01)

Crouzon Syndrome with Acanthosis Nigricans: A Case Report
gan: Ebin Roshan Paul, et al.
Cyhoeddwyd: (2024-10-01)

Living with Crouzon syndrome: transition from childhood to adulthood
gan: Ulrika Hallberg, et al.
Cyhoeddwyd: (2011-05-01)

The diagnosis and treatment of infant Crouzon syndrome with literature review
gan: Ming-Ming Yuan, et al.
Cyhoeddwyd: (2022-06-01)

Bilateral ESP block: Savior in patient with Crouzon syndrome
gan: Nidhi Arun, et al.
Cyhoeddwyd: (2022-01-01)

Crouzon syndrome: A comprehensive review and case report
gan: Aditi Gaur, et al.
Cyhoeddwyd: (2017-01-01)

Crouzon Syndrome with Ocular Abnormalities: A Case Report
gan: Shakeen Singh, et al.
Cyhoeddwyd: (2016-10-01)

Crouzons syndrome: A case report with review of literature
gan: R Tanwar, et al.
Cyhoeddwyd: (2013-01-01)