1. Autosomal bivalents can be arranged in order of size, but unambiguous identification of individual bivalents is not possible.

2. This disorder is inherited as an autosomal dominant trait.

3. Citrin deficiency is inherited in an autosomal recessive manner.

4. HHT is an autosomal dominant disordercharacterized by vascular dysplasia.

5. Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.

6. Objective To elucidate the molecular mechanism of autosomal dominant neurohypophyseal diabetes insipidus in Chinese.

7. Objective To improve the operative treatment of autosomal dominant polycystic kidney disease(ADPKD).

8. Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.

9. Epidermolytic palmoplantar keratoderma , a rare autosomal dominant hereditary disease, is a keratinization disorder of palms and soles caused by mutation in the keratin 9 gene.

10. Bovine leukocyte adhesion deficiency ( BLAD ) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.

11. Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.

12. Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.

13. Objective : To study the relationship between autosomal polymorphism and male infertility.

14. The structural changes that are seen in hemoglobin 5 and C disorders are inherited as autosomal recessive traits. 216.

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15. Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .

16. Conclusion:The model of inheritance of panic disorder maybe a kind of polygene disease with a recessive major gene or conform to autosomal recessive inheritance.

17. Most mammals hae just two kinds of photopigment in their retinas : one is encoded in the X chromosome and the other in an autosomal (non-sex) chromosome.

18. Objective:To observe the clinical effect of laparoscopic renal cyst decortication in patients with autosomal dominant polycystic kidney disease.

19. Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

20. We examined three families and suggest that it has an autosomal dominant trait with incomplete penetrance.

21. Conclusion The association of gap junction protein gene with this autosomal dominant congenital pulverulent cataract was preliminary excluded.

22. Objective:To analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease(ADPKD) in Han nationality in East China.

23. Objective To develop a method for detecting the mutations in autosomal dominant polycystic kidney disease gene 2(PKD2) and detect the mutations of PKD2 in Chinese.

24. Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.

25. Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.

26. Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.

27. However, approximately 30% of IHH is familial and can be inherited in an autosomal dominant , autosomal recessive , or X-linked manner.

28. Objective:Cyst lining epithelial cell proliferation and apoptosis are implicated in the pathogenesis of cyst formation in autosomal dominant polycystic kidney disease(ADPKD).

29. It is shown that the mean relative lengths and centromeric indices of autosomal SCs agree closely with those of mitotic chromosomes.

30. Objective To map the virulence gene for a family with coronary autosomal dominant congenital cataracts ( ADCC ).

31. Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis.

32. Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris ( IV ) .

33. Genetic counseling. SMA is inherited in an autosomal recessive manner.

34. Objective To evaluate the possibility of migraine in Chinese with the cerebral arteriopathy due to autosomal dominant implicated in subcortical infarcts and leukoencephalopathy.

35. Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.

36. Neurofibromatosis is one of autosomal - dominant neurogenetic diseases with relatively low incidence.

37. Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment.

38. Herediatery nonpopsis colorectal cancer(HNPCC) is an autosomal dominant inheritance syndrome , its penetrance is as high as 70 - 80% , and occupy about 5-15% of the colorectal cancer.

39. Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97 % in this report.

40. Mutation of CPAP induces a neuro-developmental disorder named MCPH (autosomal recessive primary microcephaly) that causes a great reduction in brain growth in human.

41. Genetic studies have shown that familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant disorder of heart muscle.

42. It is obviously autosomal dominant inheritance according to the pedigree.

43. An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.

44. Multiple osteochondromas can occur either spontaneously or in an autosomal dominant disorder known as hereditary multiple exostoses .

45. Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.

46. As with familial adenomatous polyposis,[Sentence dictionary] the inheritance pattern is autosomal dominant.

47. Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before.

48. Hereditary Non - Polyposis Colorectal Cancer Syndrome ( HNPCC ) is an autosomal dominant hereditary condition.

49. Certain autosomal translocations in the heterozygous state can be fully viable.

50. Most mammals have just two kinds of photopigment in their retinas: one is encoded in the X chromosome and the other in an autosomal (non-sex) chromosome.

51. Multiple carboxylase deficiency ( MCD ) is an autosomal recessive disorder of inherited metabolic diseases.

52. Osteogenesis imperfecta(OMIM 166200)is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue.

53. Conclusion: The genetics of the true pattern in human palmar hypothenar area may belong to autosomal dominant inheritance.

54. Conclusion:LP is an autosomal recessive disease, and the mutation of pathogenic gene of LP is rare in Chinese people.

55. Intracranial aneurysms (ICA) are common extrarenal manifestations of autosomal dominant polycystic kidney disease (ADPKD). Their natural history is not completely understood.

56. Connective tissue nevi are uncommon hamartomas that may be acquired or may manifest an autosomal dominant pattern of inheritance.

57. Dentinogenesis imperfecta (DI) is a kind of mesodermal defect inherited in a simple autosomal dominant mode.

58. Results The inheritance pattern of the ADAAA family was autosomal dominant with complete penetrance.

59. At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.

60. Autosomal recessive polycystic kidney disease (ARPKD) is much rarer than ADPKD and is often lethal. The signs and symptoms of the condition are usually apparent at birth or in early infancy.

61. BACKGROUND AND STUDY AIMS: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia formation that can lead to small-bowel bleeding.

62. Two main modes of inheritance exist: X-linked and autosomal dominant.

63. FHCM is a heterozygote autosomal dominant disease, and the incidence rate in male is obvious higher than that in female.

64. It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait.

65. Acid maltase deficiency (AMD) is a form of glycogen storage disease, which is an inherited autosomal recessive disease and rarely found in adults.

66. The main inherited mode is autosomal dominant trait with high penetrance, rare autosomal recessive.

67. Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.

68. Multiple osteochondromas can occur either spontaneously an autosomal dominant disorder known as hereditary multiple exostoses.

69. Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.

70. Hepatolenticular degeneration ( HLD ) is an autosomal reoessively inherited disease caused by copper metabolic dysfunction.

71. Objective To observe the clinical effect of laparoscopic renal cyst decortication (LRCD)for patients with autosomal dominant polycystic kidney disease (ADPKD).

72. BACKGROUND: Hypertrophic cardiomyopathy is an autosomal dominant disease of myocardium characterized by ventricular hypertrophy and myofibrillar disarrays .

73. Oculocutaneous albinism( OCA ) is a group of autosomal recessive disorders of melanin synthesis, which is characterized by congenital hypopigmentation of skin, hair and eyes.

74. Conclusion FC has obvious heterogeneity, and its mode of inheritance is autosomal dominant inheritance with reduced penetrance.

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75. Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.

76. Familial Adenomatous Polyposis Syndrome ( FAP ) is an autosomal dominant hereditary condition.

77. We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis.