Keyword Connections

monogenic

Journals

2

1 Clinical genetics

2 journal of pediatric endocrinology & metabolism : jpem

Research Groups

0

No Research Group Connected

Bibliographies

39

1 Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?

2 Familial aggregation of a Chinese female premenopausal gout: monogenic, polygenic, or clinical coincidence?

3 A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders.

4 Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform

5 Clinical application of whole exome sequencing in monogenic hereditary disorders in critically ill newborns

6 Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell-Free Fetal DNA: Noninvasive Prenatal Diagnosis

7 The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome

8 A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia

9 Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA

10 Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (Nature Medicine, (2019), 25, 3, (439-447), 10.1038/s41591-018-0334-x)

11 Precsion medicine of monogenic disorders: Lessons learned from the Saudi human Genome

12 Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

13 Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery

14 Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder

15 Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics

16 Live birth rate is associated with oocyte yield and number of biopsied and suitable blastocysts to transfer in preimplantation genetic testing (PGT) cycles for monogenic disorders and chromosomal structural rearrangements

17 CTLA4 message reflects pathway disruption in monogenic disorders and under therapeutic blockade

18 Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

19 Zero tolerance! A perspective on monogenic disorders with defective regulatory T cells and IBD-like disease

20 Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder

21 The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders

22 Monogenic Disorders of Adrenal Steroidogenesis

23 Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

24 Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases

25 Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

26 Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

27 Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service

28 Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder

29 Preimplantation Genetic Testing for Monogenic Disease of Spinal Muscular Atrophy by Multiple Displacement Amplification: 11 unaffected livebirths.

30 Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

31 Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.

32 Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes.

33 Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?

34 a boundary value problem for bihypermonogenic functions in clifford analysis

35 monogenic functions in conformal geometry

36 how useful are monogenic rodent models for the study of human non-alcoholic fatty liver disease?

37 análise bayesiana do modelo de herança monogênica no melhoramento vegetal: um exemplo com abobrinha bayesian analisys of monogenic inheritance model in plant breeding: a case study with zucchini

38 a multi-model stereo similarity function based on monogenic signal analysis in poisson scale space

39 monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues