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Gene  19 times
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DNA  11 times
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Publications tagged with this subject: 35

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1. Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing

2. Abnormal glycosylation in Joubert syndrome type 10

3. A novel androgen receptor mutation in a patient with complete androgen insensitivity syndrome

4. Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil

5. Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype

6. Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease

7. Genetic interaction of DGAT2 and FAAH in the development of human obesity

8. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome

9. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

10. Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations

11. Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

12. Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

13. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

14. A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

15. f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

16. Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder

17. TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma

18. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

19. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

20. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

21. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

22. The coexistence of psychiatric and gastrointestinal problems in children with restrictive eating in a nationwide Swedish twin study

23. CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

24. A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

25. Two Chinese pedigrees of Blau syndrome with thirteen affected members

26. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy

27. Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

28. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

29. A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

30. Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

31. Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

32. Expanding the phenotype in argininosuccinic aciduria: need for new therapies

33. A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy

34. A novel fibrinogen variant: dysfibrinogenemia associated with γAsp185Asn substitution

35. Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites


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