Search Results - "Facies"

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Authors: Zhu T Shi J Li J et al.

Source: Human mutation [Hum Mutat] 2026 Apr 24; Vol. 2026, pp. 8024677. Date of Electronic Publication: 2026 Apr 24 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

Authors: Grange DK Wegner DJ Wambach JA et al.

Corporate Authors: Grange DK Wegner DJ Wambach JA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63854. Date of Electronic Publication: 2024 Aug 21.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report.

Authors: Dos Santos HM Valente LMV Dos Santos RWV et al.

Source: Journal of child neurology [J Child Neurol] 2026 Mar; Vol. 41 (3), pp. 410-415. Date of Electronic Publication: 2025 Aug 04.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Authors: Narishige Y Nakano T Hoshi Y et al.

Source: Frontiers in immunology [Front Immunol] 2026 Feb 11; Vol. 17, pp. 1721204. Date of Electronic Publication: 2026 Feb 11 (Print Publication: 2026).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

Authors: Hong YJ Yang M Kwon HJ et al.

Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2026 Feb; Vol. 40 (3), pp. e70152. Date of Electronic Publication: 2025 Dec 21.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825 (Electronic) Linking ISSN: 08878013 NLM ISO Abbreviation: J Clin Lab Anal Subsets: MEDLINE

Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

Authors: Kumar S Fan X Pattam H et al.

Source: PLoS genetics [PLoS Genet] 2026 Jan 23; Vol. 22 (1), pp. e1012028. Date of Electronic Publication: 2026 Jan 23 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Hirschsprung's disease and Mowat-Wilson syndrome: should a pull-through be performed?

Transliterated Title: Enfermedad de Hirschsprung y síndrome de Mowat-Wilson: ¿debería realizarse un descenso transanal?

Authors: Martain-Pérez I Dávila-Pérez R Fernández-Portilla E et al.

Source: Boletin medico del Hospital Infantil de Mexico [Bol Med Hosp Infant Mex] 2026; Vol. 83 (2), pp. 87-93.

Publication Type: Journal Article

Journal Info: Publisher: Permanyer Country of Publication: Mexico NLM ID: 0414106 Publication Model: Print Cited Medium: Internet ISSN: 1665-1146 (Electronic) Linking ISSN: 05396115 NLM ISO Abbreviation: Bol Med Hosp Infant Mex Subsets: MEDLINE

Unusual leonine facies: A rare presentation.

Authors: Lim JH Lin FL

Source: The Kaohsiung journal of medical sciences [Kaohsiung J Med Sci] 2024 Oct; Vol. 40 (10), pp. 951-952. Date of Electronic Publication: 2024 Jul 29.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Department of Public Health, Kaohsiung Medical University Country of Publication: China (Republic : 1949- ) NLM ID: 100960562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2410-8650 (Electronic) Linking ISSN: 1607551X NLM ISO Abbreviation: Kaohsiung J Med Sci Subsets: MEDLINE

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

Authors: Wang MJ Febres-Cordero DA Poorvu T et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 Aug; Vol. 44 (9), pp. 1111-1114. Date of Electronic Publication: 2024 Jun 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.

Authors: Barington M Bak M Kjartansdóttir KR et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63581. Date of Electronic Publication: 2024 Apr 11.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Anesthetic Management of a Patient With Myhre Syndrome.

Authors: Morita Y Kudo C Nakagawa H et al.

Source: Anesthesia progress [Anesth Prog] 2025 Dec 09; Vol. 72 (4), pp. 249-250. Date of Electronic Publication: 2025 Dec 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Anesthesia Progress Country of Publication: United States NLM ID: 0043533 Publication Model: Electronic Cited Medium: Internet ISSN: 1878-7177 (Electronic) Linking ISSN: 00033006 NLM ISO Abbreviation: Anesth Prog Subsets: MEDLINE

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Authors: Zeng L Zhang Y Zhu Y et al.

Source: Translational psychiatry [Transl Psychiatry] 2025 Nov 18; Vol. 15 (1), pp. 482. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Authors: Yoo J Park AY Ko JM

Source: BMC medical genomics [BMC Med Genomics] 2025 Oct 06; Vol. 18 (1), pp. 149. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.

Authors: Arai Y Okanishi T Okazaki T et al.

Source: BMC pediatrics [BMC Pediatr] 2024 May 06; Vol. 24 (1), pp. 308. Date of Electronic Publication: 2024 May 06.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

Authors: Woods E Holmes N Albaba S et al.

Source: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 470-487. Date of Electronic Publication: 2024 Feb 29.

Publication Type: Journal Article; Review

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.

Authors: Goldfarb Yaacobi R Sukenik Halevy R

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63503. Date of Electronic Publication: 2023 Dec 20.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

A facies-constrained flow-network model for fast history matching and production optimization of polymer flooding reservoirs.

Authors: Qin, Guo-Yu Yan, Xia Zhang, Kai et al.

Source: Petroleum Science (KeAi Communications Co.). Jun2026, Vol. 23 Issue 6, p3408-3438. 31p.

安塞油田 WY 区中部长 61 砂层组单砂体刻画及 注采对应性分析.

Alternate Title: Fine Characterization of Single Sandbody and Analysis of Injection-production Correspondence of Chang 61 Sand Layer Group in the Middle of WY Block of Ansai Oilfield.

Authors: 杨洪伟 王铭显 李维振 et al.

Source: Science Technology & Engineering. 2026, Vol. 26 Issue 14, p5866-5884. 19p.

Mineralogical Facies and Metal Enrichment in the Shallow-Water Hydrothermal System of Panarea Island (Aeolian Volcanic Arc, Mediterranean Sea).

Authors: Di Bella, Marcella Romano, Davide Volpi, Valentina et al.

Source: Minerals (2075-163X). May2026, Vol. 16 Issue 5, p505. 27p.

Characterization of gravity-flow deposits in the Chang 7-9 oil groups in the Yanchang Formation, Ganquan County, Ordos Basin.

Authors: Zhang, Jiale Zhao, Jingzhou Gao, Zhendong et al.

Source: Energy Geoscience. Apr2026, Vol. 7 Issue 2, p1-17. 17p.