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  • 1-10 ل  25 نتائج ل ""vesicular transport""

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Publication : bmc medical genetics
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Academic Journal

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.

  • Authors : Momtazmanesh S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Subjects: Fingers/Fingers/Fingers/*abnormalities ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics ; Microcephaly/Microcephaly/Microcephaly/*genetics Cohen syndrome

  • Source: BMC medical genetics [BMC Med Genet] 2020 Jun 30; Vol. 21 (1), pp. 140. Date of Electronic Publication: 2020 Jun 30.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

Subjects: Cohen syndrome; Neutropenia; Frameshift mutation

  • Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

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Academic Journal

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Subjects: Fingers; Humans; Microcephaly

  • Source: BMC medical genetics. 16(1)

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Academic Journal

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

  • Authors : Ilyas M; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, 44000, Pakistan.; Efthymiou S

Subjects: Consanguinity* ; Polymorphism, Genetic*; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2020 Mar 24; Vol. 21 (1), pp. 59. Date of Electronic Publication: 2020 Mar 24.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

  • Authors : Ouchkat F; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Regragui W

Subjects: Polymorphism, Single Nucleotide*; Neuroacanthocytosis/Neuroacanthocytosis/Neuroacanthocytosis/*genetics ; Vesicular Transport Proteins/Vesicular Transport Proteins/Vesicular Transport Proteins/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2020 Mar 04; Vol. 21 (1), pp. 47. Date of Electronic Publication: 2020 Mar 04.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

  • Authors : Song Y; Central Laboratory, Zhengzhou People's Hospital Affiliated to Southern Medical University, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.; Dong Z

Subjects: Amino Acid Sequence/Amino Acid Sequence/Amino Acid Sequence/*genetics ; Chediak-Higashi Syndrome/Chediak-Higashi Syndrome/Chediak-Higashi Syndrome/*genetics ; Vesicular Transport Proteins/Vesicular Transport Proteins/Vesicular Transport Proteins/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2020 Jan 06; Vol. 21 (1), pp. 4. Date of Electronic Publication: 2020 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

  • Authors : Zhao S; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, 410007, China.; Department of Child Healthcare, Hunan Children's Hospital, University of South China, Changsha, 410007, Hunan, China.

Subjects: Mutation*; Fingers/Fingers/Fingers/*abnormalities ; Hand/Hand/Hand/*pathology Cohen syndrome

  • Source: BMC medical genetics [BMC Med Genet] 2019 Nov 21; Vol. 20 (1), pp. 187. Date of Electronic Publication: 2019 Nov 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.

  • Authors : Degtyareva AV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia.; Sechenov First Moscow State Medical University, Moscow, Russia.

Subjects: Cholestasis/Cholestasis/Cholestasis/*complications ; Hexosaminidases/Hexosaminidases/Hexosaminidases/*blood ; Niemann-Pick Disease, Type C/Niemann-Pick Disease, Type C/Niemann-Pick Disease, Type C/*diagnosis Cholestasis, progressive familial intrahepatic 1

  • Source: BMC medical genetics [BMC Med Genet] 2019 Jul 11; Vol. 20 (1), pp. 123. Date of Electronic Publication: 2019 Jul 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

  • Authors : Sheng L; Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, China.; Zhang W

Subjects: Point Mutation*; Epstein-Barr Virus Infections/Epstein-Barr Virus Infections/Epstein-Barr Virus Infections/*genetics ; Lymphohistiocytosis, Hemophagocytic/Lymphohistiocytosis, Hemophagocytic/Lymphohistiocytosis, Hemophagocytic/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2019 Feb 19; Vol. 20 (1), pp. 34. Date of Electronic Publication: 2019 Feb 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood.

  • Authors : Khouja J; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. .; Bristol Medical School: Population Health Sciences, University of Bristol, Bristol, UK. .

Subjects: Health Risk Behaviors* ; Polymorphism, Single Nucleotide*; Aldehyde Dehydrogenase/Aldehyde Dehydrogenase/Aldehyde Dehydrogenase/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2018 Apr 12; Vol. 19 (1), pp. 62. Date of Electronic Publication: 2018 Apr 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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  • 1-10 ل  25 نتائج ل ""vesicular transport""