Search Results - "Trider CL"

CHARGE syndrome associated with de novo (I1460Rfs^*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney.

Authors: Gug, Cristina Gorduza, Eusebiu Vlad Lăcătuşu, Adrian et al.

Source: Experimental & Therapeutic Medicine. Jul2020, Vol. 20 Issue 1, p479-485. 7p.

A Fatal Neonatal Case of CHARGE Syndrome and Mini-Review of the Literature.

Alternate Title: Fatal Seyirli Bir Neonatal CHARGE Sendromu Ogusu ve Kısa Literatür Taraması.

Authors: DOKUZBOY, REFİKA SIRMA SARI, FATMA NUR ÇAKAR, ESRA ŞÜKRAN et al.

Source: Jinekoloji-Obstetrik & Neonatoloji Tip Dergisi. eyl2023, Vol. 20 Issue 3, p1956-1958. 3p.

Reprogramming of the epigenome in neurodevelopmental disorders.

Authors: Wilson, Khadija D. Porter, Elizabeth G. Garcia, Benjamin A.

Source: Critical Reviews in Biochemistry & Molecular Biology. Feb2022, Vol. 57 Issue 1, p73-112. 40p.

Clinical utility gene card for: CHARGE syndrome - update 2015.

Authors: van Ravenswaaij-Arts, Conny MA Blake, Kim Hoefsloot, Lies et al.

Source: European Journal of Human Genetics. Nov2015, Vol. 23 Issue 11, p1. 1p.

Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) - four-year single center experience.

Authors: Janssens K De Rademaeker M Muys J et al.

Source: Journal of perinatal medicine [J Perinat Med] 2025 Oct 28; Vol. 54 (2), pp. 340-353. Date of Electronic Publication: 2025 Oct 28 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1619-3997 (Electronic) Linking ISSN: 03005577 NLM ISO Abbreviation: J Perinat Med Subsets: MEDLINE

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).

Authors: Trider CL Arra-Robar A van Ravenswaaij-Arts C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Mar; Vol. 173 (3), pp. 684-691. Date of Electronic Publication: 2017 Feb 04.

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

Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Authors: Blake K Trider CL Hartshorne TS et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3365-3366. Date of Electronic Publication: 2016 Oct 14.

Publication Type: Letter

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

Stiehm's Immune Deficiencies : Inborn Errors of Immunity

Authors: Kathleen E. Sullivan E. Richard Stiehm

Resource Type: eBook.

Subjects: Immunologic diseases, Immunodeficiency, Immunological deficiency syndromes

Categories: MEDICAL / Immunology

Frontiers In Autism Research: New Horizons For Diagnosis And Treatment

Authors: Valerie W Hu

Resource Type: eBook.

Subjects: Autism spectrum disorders, Autism spectrum disorders--Treatment

Categories: MEDICAL / Neuroscience, MEDICAL / Genetics, SCIENCE / Life Sciences / Cell Biology

New Feeding Assessment Scale for individuals with genetic syndromes: Validity and reliability in the CHARGE syndrome population.

Authors: Hudson AS Stratton-Gadke K Hatchette J et al.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2021 Aug; Vol. 57 (8), pp. 1234-1243. Date of Electronic Publication: 2021 Mar 08.

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

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Fetal cardiac abnormalities: Genetic etiologies to be considered.

Authors: Petracchi F Sisterna S Igarzabal L et al.

Source: Prenatal diagnosis [Prenat Diagn] 2019 Aug; Vol. 39 (9), pp. 758-780. Date of Electronic Publication: 2019 Jul 29.

Publication Type: Journal Article; Review

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

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals.

Authors: Millischer AE Sonigo P Attie T et al.

Source: Prenatal diagnosis [Prenat Diagn] 2019 Aug; Vol. 39 (9), pp. 781-791. Date of Electronic Publication: 2019 Apr 03.

Publication Type: 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

CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.

Authors: Breuer M Rummler M Singh J et al.

Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2024 May 02; Vol. 39 (4), pp. 498-512.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Inborn errors of immunity associated with characteristic phenotypes.

Authors: Bardou MLD Henriques MT Grumach AS

Source: Jornal de pediatria [J Pediatr (Rio J)] 2021 Mar-Apr; Vol. 97 Suppl 1, pp. S75-S83. Date of Electronic Publication: 2020 Dec 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Editora Ltd Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.

Authors: Kim HH Kim AR Kim NKD et al.

Source: Neonatology [Neonatology] 2020; Vol. 117 (3), pp. 374-379. Date of Electronic Publication: 2020 Mar 03.

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

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology Subsets: MEDLINE

Short Sleep Duration and Obesity Among Children.

Authors: Kawada T; Department of Hygiene and Public Health, Nippon Medical School, Tokyo, Japan.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2017 Dec; Vol. 53 (12), pp. 1245-1246.

Publication Type: Letter; Comment

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Late Dumping Syndrome in a 17-Year-Old Female With Charge Syndrome.

Authors: Morgan A Hudson A Arra-Robar A et al.

Source: Journal of paediatrics and child health [J Paediatr Child Health] 2017 Dec; Vol. 53 (12), pp. 1244-1245.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Quality of life in adolescents and adults with CHARGE syndrome.

Authors: Hartshorne N Hudson A MacCuspie J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Aug; Vol. 170 (8), pp. 2012-21. Date of Electronic Publication: 2016 Jun 08.

Publication Type: Case Reports; Journal Article; Review

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