| scholarly article | Q13442814 |
| P50 | author | Anne Slavotinek | Q57489648 |
| Dick Tibboel | Q88459455 | ||
| P2093 | author name string | Caraciolo J Fernandes | |
| Katherine A Rauen | |||
| Sau Wai Cheung | |||
| Thomas Schaible | |||
| Anthony Johnson | |||
| Annelies de Klein | |||
| Vijay S Tonk | |||
| Daryl A Scott | |||
| Margaret J Wat | |||
| Kevin P Lally | |||
| Ashley M Holder | |||
| Oleg A Shchelochkov | |||
| Olivier Danhaive | |||
| Jacob Hogue | |||
| Zhiyin Yu | |||
| Danielle Veenma | |||
| Jeanette J Wat | |||
| Neil Hanchard | |||
| P2860 | cites work | Fog2 is required for normal diaphragm and lung development in mice and humans | Q21145284 |
| Functional genomics reveals a family of eukaryotic oxidation protection genes | Q24290614 | ||
| Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH | Q24297817 | ||
| ASPP2 inhibits APP‐BP1‐mediated NEDD8 conjugation to cullin‐1 and decreases APP‐BP1‐induced cell proliferation and neuronal apoptosis | Q24299851 | ||
| WDR26: a novel Gbeta-like protein, suppresses MAPK signaling pathway | Q24304452 | ||
| Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1 | Q24673286 | ||
| Tbx6 regulates left/right patterning in mouse embryos through effects on nodal cilia and perinodal signaling | Q27301024 | ||
| A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart | Q28184093 | ||
| ASPP2 is a haploinsufficient tumor suppressor that cooperates with p53 to suppress tumor growth | Q28509641 | ||
| Hlx homeo box gene is essential for an inductive tissue interaction that drives expansion of embryonic liver and gut | Q28513958 | ||
| Frizzled 1 and frizzled 2 genes function in palate, ventricular septum and neural tube closure: general implications for tissue fusion processes | Q28586361 | ||
| Wnt5a regulates distinct signalling pathways by binding to Frizzled2 | Q28588878 | ||
| Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched | Q28589361 | ||
| Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6 | Q28589973 | ||
| Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size | Q29544005 | ||
| Prediction of deleterious human alleles | Q29614367 | ||
| Integrated detection and population-genetic analysis of SNPs and copy number variation | Q29614584 | ||
| SNPs3D: candidate gene and SNP selection for association studies. | Q30353456 | ||
| Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia | Q30436094 | ||
| The migration of paraxial and lateral plate mesoderm cells emerging from the late primitive streak is controlled by different Wnt signals. | Q30482424 | ||
| Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. | Q33939387 | ||
| Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization | Q33942314 | ||
| Fryns syndrome survivors and neurologic outcome | Q34375000 | ||
| Mesoderm-specific expression of the divergent homeobox gene Hlx during murine embryogenesis | Q34405815 | ||
| Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia | Q34633997 | ||
| Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients | Q34637401 | ||
| High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians | Q34964608 | ||
| Where to look for the genes related to diaphragmatic hernia? | Q35119126 | ||
| Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. | Q35209375 | ||
| Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia | Q35578481 | ||
| Genetic factors in congenital diaphragmatic hernia | Q35752633 | ||
| Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins | Q36014002 | ||
| Structure-function analysis of Frizzleds | Q36397539 | ||
| Genetics of congenital diaphragmatic hernia | Q36803037 | ||
| The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome | Q36943643 | ||
| Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans | Q37415443 | ||
| Wnt3a-mediated chemorepulsion controls movement patterns of cardiac progenitors and requires RhoA function | Q38293777 | ||
| Overexpression of MIP2, a novel WD-repeat protein, promotes proliferation of H9c2 cells | Q39737198 | ||
| Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome | Q39874726 | ||
| A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. | Q51547821 | ||
| Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. | Q51942378 | ||
| Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. | Q53645235 | ||
| Congenital diaphragmatic hernia associated with duplication of 11q23-qter. | Q55101072 | ||
| Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH | Q57269549 | ||
| Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH) | Q57316902 | ||
| Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype | Q70525888 | ||
| The simulation of mendelism | Q78931913 | ||
| Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia | Q79518248 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| congenital diaphragmatic hernia | Q2163245 | ||
| P304 | page(s) | 299-307 | |
| P577 | publication date | 2011-05-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia | |
| P478 | volume | 48 |
| Q55626638 | A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia. |
| Q47151407 | ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. |
| Q49153594 | Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients |
| Q37708606 | Congenital Diaphragmatic hernia - a review |
| Q34153404 | Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. |
| Q52846705 | Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. |
| Q41440531 | Congenital diaphragmatic hernias: from genes to mechanisms to therapies. |
| Q36686762 | Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development |
| Q44919513 | Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula |
| Q41663940 | Corticothalamic Projection Neuron Development beyond Subtype Specification: Fog2 and Intersectional Controls Regulate Intraclass Neuronal Diversity |
| Q36968629 | De novo copy number variants are associated with congenital diaphragmatic hernia |
| Q36580744 | Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. |
| Q37998984 | Developmental and genetic aspects of congenital diaphragmatic hernia |
| Q52606036 | Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins. |
| Q38120090 | Family-based studies to identify genetic variants that cause congenital heart defects |
| Q57070008 | Gene ontology enrichment analysis of congenital diaphragmatic hernia-associated genes |
| Q34657017 | Genetic causes of congenital diaphragmatic hernia |
| Q37998941 | Genomic microarrays: a technology overview |
| Q52756201 | HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. |
| Q50715864 | Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. |
| Q35115862 | Metabolic disturbances of the vitamin A pathway in human diaphragmatic hernia |
| Q30841576 | Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics |
| Q36190985 | Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. |
| Q89761262 | Nutrients and Microbiota in Lung Diseases of Prematurity: The Placenta-Gut-Lung Triangle |
| Q52595075 | Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report. |
| Q35541469 | Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. |
| Q38271382 | Pulmonary vascular development goes awry in congenital lung abnormalities |
| Q54414790 | Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. |
| Q53473385 | SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. |
| Q55385606 | Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. |
| Q52332060 | The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia. |
| Q37703396 | Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy. |
| Q46581841 | WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. |
| Q36271500 | Wt1 and β-catenin cooperatively regulate diaphragm development in the mouse |
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