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289 results on '"MESH: Pedigree"'

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1. Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

2. A novel microduplication in <scp> INPP5A </scp> segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder

3. Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

4. Impact of a frequent nearsplice SOD1 variant in Amyotrophic Lateral Sclerosis: optimizing SOD1 genetic screening for gene therapy opportunities

5. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

6. Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

7. ATP8A2-related disorders as recessive cerebellar ataxia

8. Identification of PITX3 mutations in individuals with various ocular developmental defects

9. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

10. Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

11. Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

12. Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

13. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

14. 4q25 microdeletion encompassing PITX2 : A patient presenting with tetralogy of Fallot and dental anomalies without ocular features

15. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

16. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

17. Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes

18. identification of a missense variant in cldn2 in obstructive azoospermia

19. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

20. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

21. Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

22. Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

23. Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

24. A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

25. Variant PADI3 in Central Centrifugal Cicatricial Alopecia

26. Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

27. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma

28. Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

29. Two neurologic facets of CTLA4-related haploinsufficiency

30. Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

31. Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families

32. A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

33. Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

34. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

35. A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

36. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

37. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries

38. Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate

39. Strategies for Phasing and Imputation in a Population Isolate

40. Letter to the Editor: Maternally Inherited Diabetes and Deafness is Not Only Biorgan but Multiorgan

41. Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

42. Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

43. Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia

44. Human adaptive immunity rescues an inborn error of innate immunity

45. Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

46. The HNF1B score is a simple tool to select patients for HNF1B gene analysis

47. Letter by Finsterer and Zarrouk-Mahjoub Regarding Article, 'Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction'

48. Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome

49. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

50. Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

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