Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
出版年份 2023 全文链接
标题
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
作者
关键词
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出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2023-11-06
DOI
10.1038/s41431-023-01488-5
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance
- (2022) Britt Johnson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
- (2022) Jingjing Li et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
- (2022) Justyna Dąbrowska et al. MOLECULAR GENETICS AND GENOMICS
- Orofacial clefts embryology, classification, epidemiology, and genetics
- (2021) Ghenwa Nasreddine et al. MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
- Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
- (2021) Patrick R. Gonzales et al. GENETICS IN MEDICINE
- Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
- (2020) Marcello Niceta et al. BMC Pediatrics
- Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
- (2020) Saradadevi Thanikachalam et al. Genes
- Identification of genomic imbalances in oral clefts
- (2020) Elaine Lustosa-Mendes et al. Jornal de Pediatria
- Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy
- (2020) Valeria Morbidoni et al. JOURNAL OF MEDICAL GENETICS
- A COMPREHENSIVE ASSESSMENT OF CO-OCCURRING BIRTH DEFECTS AMONG INFANTS WITH NON-SYNDROMIC ANOPHTHALMIA OR MICROPHTHALMIA
- (2020) Jeremy M. Schraw et al. OPHTHALMIC EPIDEMIOLOGY
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
- (2019) J. Plaisancié et al. HUMAN GENETICS
- Exploring GRHL3 polymorphisms and SNP‐SNP interactions in the risk of nonsyndromic oral clefts in the Brazilian population
- (2019) Camilla de Marchi Sanches Azevedo et al. ORAL DISEASES
- Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
- (2019) Erin Rooney Riggs et al. GENETICS IN MEDICINE
- Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
- (2018) Mirta Basha et al. JOURNAL OF MEDICAL GENETICS
- Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
- (2017) Thierry Vilboux et al. GENETICS IN MEDICINE
- Exomic variants of an elderly cohort of Brazilians in the ABraOM database
- (2017) Michel Satya Naslavsky et al. HUMAN MUTATION
- Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development
- (2017) P. Cela et al. JOURNAL OF DENTAL RESEARCH
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- CranFlow : An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies
- (2017) Roberta M. Volpe-Aquino et al. Birth Defects Research
- A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population
- (2016) Tânia Kawasaki de Araujo et al. JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY
- The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
- (2016) Michinori Toriyama et al. NATURE GENETICS
- Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark
- (2016) Laura Roos et al. OPHTHALMIC EPIDEMIOLOGY
- Atypical phenotypes associated with pathogenicCHD7variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
- (2015) Caitlin L. Hale et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients with Cleft Lip and/or Palate
- (2015) Kitiwan Rojnueangnit et al. CLEFT PALATE-CRANIOFACIAL JOURNAL
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients with Cleft Lip and/or Palate
- (2015) Kitiwan Rojnueangnit et al. CLEFT PALATE-CRANIOFACIAL JOURNAL
- Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
- (2013) Miriam Schmidts et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
- (2013) Miriam Schmidts et al. JOURNAL OF MEDICAL GENETICS
- NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
- (2011) Christian Thiel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations
- (2011) Irina Balikova et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
- (2011) Claudia Dafinger et al. JOURNAL OF CLINICAL INVESTIGATION
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
- (2011) Audrey Putoux et al. NATURE GENETICS
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
- (2009) D. Doherty et al. JOURNAL OF MEDICAL GENETICS
- Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C
- (2008) Julia Rankin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate
- (2008) Jiri Vajsar et al. NEUROMUSCULAR DISORDERS
- Leopard syndrome
- (2008) Anna Sarkozy et al. Orphanet Journal of Rare Diseases
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