F. Jehee

发表

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Siulan Vendramini-Pittoli, R. M. Candido-Souza, R. Quiezi, 2020, Journal of Pediatric Genetics.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Dian Donnai, Dominik Seelow, Elizabeth Sweeney, 2007, American journal of human genetics.

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.

F. Jehee, G. Vianna, P. Medeiros, 2016, Genetics and molecular research : GMR.

Craniosynostosis and Chromosomal Alterations

M. Passos-Bueno, F. Jehee, R. Fanganiello, 2011 .

Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

E. Jabs, J. Mulliken, M. Passos-Bueno, 2006, The Cleft Palate-Craniofacial Journal.

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

D. Bueno, M. Passos-Bueno, R. Zechi-Ceide, 2009, American journal of medical genetics. Part A.

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

D. Oepkes, D. Smeets, F. Jehee, 2019, American journal of human genetics.

An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

J. Vermeesch, M. Passos-Bueno, C. Kim, 2007, American journal of medical genetics. Part A.

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

J. Hurst, A. Wilkie, D. Jenkins, 2011, Human mutation.

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

L. Hoefsloot, Siulan Vendramini-Pittoli, R. M. Candido-Souza, 2019, American journal of medical genetics. Part A.

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test

F. Jehee, J. Mazzeu, G. Vianna, 2017, Molecular Syndromology.

SNX3, UBE2O and SNX27 Protein Expressions are Altered in the Hypothalamus of High-Fat Diet Fed Mice. Possible Implications for Retrograde Protein Trafficking

F. Jehee, A. Bosco, K. Fernandes, 2019, Archives of Diabetes and Endocrine System.

Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

M. Passos-Bueno, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2012, American journal of medical genetics. Part A.

Muenke Syndrome ( FGFR 3-Related Craniosynostosis ) : Expansion of the Phenotype and Review of the Literature

E. Zackai, C. Brewer, B. Solomon, 2007 .

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

M. Passos-Bueno, C. Kim, F. Jehee, 2011, European journal of medical genetics.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

F. Jehee, E. Sistermans, B. Faas, 2022, American journal of human genetics.

Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major genes determining MRKH anomaly in a study of 25 affected women

C. Kim, F. Jehee, B. Mendonca, 2006, American journal of medical genetics. Part A.

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

F. Jehee, C. Koiffmann, C. D’Angelo, 2007, American journal of medical genetics. Part A.

Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes

F. Jehee, G. Vianna, E. Mateo, 2016, Molecular Syndromology.

Heterozygous Mutations of FREM 1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2019 .

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

L. Vissers, J. Veltman, K. Sekiguchi, 2011, PLoS genetics.

Title Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2022 .

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.

C. Kim, F. Jehee, R. Honjo, 2012, Journal of genetics and genomics = Yi chuan xue bao.

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

W. Sloos, M. Passos-Bueno, P. Pearson, 2006, Cytogenetic and Genome Research.

Methylation profile of SNRPN gene and its correlation with weight and chronological age.

F. Jehee, A. Bosco, F. V. M. Rubatino, 2015, Genetics and molecular research : GMR.

Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

J. Lupski, R. Gibbs, S. Jhangiani, 2017, American journal of medical genetics. Part A.

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

C. Kim, F. Jehee, D. Bertola, 2012, BMC Research Notes.

Research Letter An Inherited Atypical 1 Mb 22q11.2 Deletion Within the DGS/VCFS 3 Mb Region in a Child With Obesity and Aggressive Behavior

F. Jehee, C. Koiffmann, C. D’Angelo, 2007 .

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005, American journal of medical genetics. Part A.

An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005 .

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

E. Zackai, C. Brewer, B. Solomon, 2007, American journal of medical genetics. Part A.

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

M. Passos-Bueno, F. Jehee, R. Fanganiello, 2008, Frontiers of oral biology.

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

M. Passos-Bueno, C. Kim, F. Jehee, 2008, Journal of Medical Genetics.

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

M. Passos-Bueno, R. Zechi-Ceide, F. Jehee, 2012, American journal of medical genetics. Part A.

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

F. Jehee, A. de Klein, I. Mathijssen, 2021, Frontiers in Pediatrics.

Manipulation of primer affinity improves high-resolution melting accuracy for imprinted genes.

F. Jehee, A. Bosco, F. V. M. Rubatino, 2015, Genetics and molecular research : GMR.

Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

F. Jehee, E. Sistermans, M. Srebniak, 2021, Acta obstetricia et gynecologica Scandinavica.

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

L. Hoefsloot, F. Jehee, M. Knapen, 2020, Prenatal diagnosis.

High-fat diet feeding reduces the expression of Rab3a, Rab3gap1, and Rab3Gap2 genes that are pivotal to neuronal exocytosis

F. Jehee, A. Bosco, F. V. M. Rubatino, 2021 .

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly

E. Jabs, M. Passos-Bueno, A. Wilkie, 2005, Clinical genetics.