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224 results on '"Hofstra RM"'

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1. A combinatorial panel for flow cytometry-based isolation of enteric nervous system cells from human intestine.

2. ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.

3. Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System.

4. Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy.

5. Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.

6. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

7. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

8. Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

9. Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.

10. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

11. Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

12. Genetics of enteric neuropathies.

13. The enteric nervous system: From embryology to therapy.

14. Epigenetics in ENS development and Hirschsprung disease.

15. White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies.

16. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.

17. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

18. RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

19. Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

20. Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development.

21. Correspondence: SEMA4A variation and risk of colorectal cancer.

22. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

23. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

24. Hirschsprung Disease and Activation of Hedgehog Signaling via GLI1-3 Mutations.

25. Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

26. Endocrine tumours: progressive metastatic medullary thyroid carcinoma: first- and second-line strategies.

27. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

28. High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

29. New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

30. Charles Buys (1942-2014).

31. No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

32. Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.

33. Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

34. Pathways systematically associated to Hirschsprung's disease.

35. Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.

36. Novel no-stop FLNA mutation causes multi-organ involvement in males.

37. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

39. The cardiac phenotype in patients with a CHD7 mutation.

40. Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

41. Brush border myosin Ia inactivation in gastric but not endometrial tumors.

42. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

43. Building a brain in the gut: development of the enteric nervous system.

44. The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.

45. The role of maternal-fetal cholesterol transport in early fetal life: current insights.

46. Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

47. CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development.

48. Clinical relevance of 18F-FDG PET and 18F-DOPA PET in recurrent medullary thyroid carcinoma.

49. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

50. RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.

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