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Identification of Novel IL-10RA Variant in Infantile‐Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype–Phenotype Correlation From Two Chinese Families.

• Authors : Guan, Chengcheng^1,2 (AUTHOR); Ma, Yuanxuan^1,2 (AUTHOR); Zhang, Xiao^1,2 (AUTHOR)

• Source: Case Reports in Medicine. 12/15/2025, Vol. 2025, p1-9. 9p.

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Exploring the periodontal phenotype of Uygur adults in Xinjiang, China.

• Authors : Wu X; Clinical Research Center for Oral Tissue Deficiency Diseases of Fujian Province & Fujian Key Laboratory of Oral Diseases & Fujian Provincial Engineering Research Center of Oral Biomaterial, School and Hospital of Stomatology, Fujian Medical University, Fuzhou, China.; Meng X

Subjects: Gingiva*/Gingiva*/Gingiva*/anatomy & histology ; Gingiva*/Gingiva*/Gingiva*/diagnostic imaging ; Periodontium*/Periodontium*/Periodontium*/anatomy & histology

• Source: Scientific reports [Sci Rep] 2025 Dec 12; Vol. 15 (1), pp. 43766. Date of Electronic Publication: 2025 Dec 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

• Authors : Huang Y; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.; Lin H

Subjects: Collagen Type IV*/Collagen Type IV*/Collagen Type IV*/genetics ; Nephritis, Hereditary*/Nephritis, Hereditary*/Nephritis, Hereditary*/genetics ; Nephritis, Hereditary*/Nephritis, Hereditary*/Nephritis, Hereditary*/classification

• Source: Renal failure [Ren Fail] 2025 Dec; Vol. 47 (1), pp. 2570072. Date of Electronic Publication: 2025 Oct 14.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8701128 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China.

• Authors : Lan D; Department of Plastic Surgery, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Road, Shanghai, 201102, China.; Zhang S

Subjects: Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/genetics ; Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/diagnosis ; Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/Beckwith-Wiedemann Syndrome*/epidemiology

• Source: Italian journal of pediatrics [Ital J Pediatr] 2025 Sep 29; Vol. 51 (1), pp. 276. Date of Electronic Publication: 2025 Sep 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Genotype-phenotype spectrum and correlations in Chinese patients with keratinocytic epidermal naevus: A retrospective study of 22 cases.

• Authors : Li Z; Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.; Wang S

Subjects: Nevus*/Nevus*/Nevus*/genetics ; Nevus*/Nevus*/Nevus*/diagnosis ; Nevus*/Nevus*/Nevus*/pathology Epidermal Nevus

• Source: Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2025 Sep-Oct; Vol. 91 (5), pp. 637-642.Publisher: Scientific Scholar on behalf of Indian Association of Dermatologists, Venereologists & Leprologists Country of Publication: United States NLM ID: 7701852

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Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.

• Authors : Li F; Department of Oncologic and Urologic Surgery, The 903rd PLA Hospital, Hangzhou Medical College, Hangzhou, Zhejiang Province, China.; Department of Urology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Enze Hospital of Hangzhou Medical College, Taizhou Enze Medical Center (Group), Taizhou, Zhejiang Province, China.

Subjects: Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/genetics ; Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/pathology ; Proto-Oncogene Proteins c-ret*/Proto-Oncogene Proteins c-ret*/Proto-Oncogene Proteins c-ret*/genetics Thyroid cancer, medullary

• Source: PloS one [PLoS One] 2025 Sep 11; Vol. 20 (9), pp. e0332136. Date of Electronic Publication: 2025 Sep 11 (Print Publication: 2025).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Genotype and phenotype analysis of α-thalassemia fusion gene in southern China.

• Authors : Ge YY; Guangdong Hybribio Limited Corporation, Guangzhou, People's Republic of China.; Lai YQ

Subjects: alpha-Thalassemia*/alpha-Thalassemia*/alpha-Thalassemia*/genetics ; alpha-Thalassemia*/alpha-Thalassemia*/alpha-Thalassemia*/epidemiology ; Genotype*

• Source: Hematology (Amsterdam, Netherlands) [Hematology] 2024 Dec; Vol. 29 (1), pp. 2399361. Date of Electronic Publication: 2024 Sep 12.Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin.

• Authors : Ge Y; Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.; Zheng G

Subjects: Hemoglobins, Abnormal*/Hemoglobins, Abnormal*/Hemoglobins, Abnormal*/genetics ; Hemoglobinopathies*/Hemoglobinopathies*/Hemoglobinopathies*/genetics ; Hemoglobinopathies*/Hemoglobinopathies*/Hemoglobinopathies*/blood

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70012.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension.

• Authors : He Y; Department of Pediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.; Li Q

Subjects: Familial Primary Pulmonary Hypertension*/Familial Primary Pulmonary Hypertension*/Familial Primary Pulmonary Hypertension*/genetics ; Familial Primary Pulmonary Hypertension*/Familial Primary Pulmonary Hypertension*/Familial Primary Pulmonary Hypertension*/epidemiology ; Familial Primary Pulmonary Hypertension*/Familial Primary Pulmonary Hypertension*/Familial Primary Pulmonary Hypertension*/diagnosis

• Source: Respiratory research [Respir Res] 2025 Jul 02; Vol. 26 (1), pp. 231. Date of Electronic Publication: 2025 Jul 02.Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN:

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Comparison of novel and traditional anthropometric indices in Eastern-China adults: which is the best indicator of the metabolically obese normal weight phenotype?

• Authors : Chen Y; Department of Non-Communicable Chronic Disease Prevention, Nanjing Municipal Center for Disease Control and Prevention, Nanjing, 210003, China.; Wang C

Subjects: Anthropometry* ; Phenotype*; China/China/China/epidemiology

• Source: BMC public health [BMC Public Health] 2024 Aug 13; Vol. 24 (1), pp. 2192. Date of Electronic Publication: 2024 Aug 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968562 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2458

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