Search Results - "Uctepe E"

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.

Authors: Aslan D Uctepe E Yesilyurt A et al.

Source: Molecular syndromology [Mol Syndromol] 2025 Dec; Vol. 16 (6), pp. 624-630. Date of Electronic Publication: 2025 Feb 27.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Authors: Abu-El-Haija A Bayat A Mancılar H et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1725-1739. Date of Electronic Publication: 2026 Mar 12.

Publication Type: Case Reports; 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

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

Authors: Uctepe E Esen FN Mancilar H et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1601-1607. Date of Electronic Publication: 2026 Mar 10.

Publication Type: Journal Article; Case Reports

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 Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

Authors: Dursun E Uctepe E Guler S et al.

Source: Molecular syndromology [Mol Syndromol] 2026 Apr; Vol. 17 (2), pp. 169-173. Date of Electronic Publication: 2025 Aug 21.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Authors: Levine JM Calame DG Sangermano R et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Feb 05; Vol. 113 (2), pp. 362-379. Date of Electronic Publication: 2026 Jan 15.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Authors: Morsy H Kim H Jang G et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Feb 05; Vol. 113 (2), pp. 380-391. Date of Electronic Publication: 2026 Jan 21.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.

Authors: Uctepe E Mancılar H Esen FN et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Apr; Vol. 197 (4), pp. e63952. Date of Electronic Publication: 2024 Dec 17.

Publication Type: Journal Article; Case Reports; 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

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.

Authors: Uctepe E Kandemir N Bir FD et al.

Source: Molecular syndromology [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 251-256. Date of Electronic Publication: 2024 Jan 30.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.

Authors: Uctepe E Yesilyurt A Esen FN et al.

Source: Molecular syndromology [Mol Syndromol] 2023 Dec; Vol. 14 (6), pp. 485-492. Date of Electronic Publication: 2023 Aug 07.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Authors: Thomas HB Demain LAM Cabrera-Orefice A et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Apr 03; Vol. 112 (4), pp. 952-962. Date of Electronic Publication: 2025 Mar 04.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Authors: Laugwitz L Buchert R Olguín P et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Jan 02; Vol. 112 (1), pp. 168-180.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Authors: van der Sluijs PJ Gösgens M Dingemans AJM et al.

Source: Genetics in medicine open [Genet Med Open] 2024 Jul 23; Vol. 2, pp. 101873. Date of Electronic Publication: 2024 Jul 23 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Authors: Uctepe E Vona B Esen FN et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan; Vol. 32 (1), pp. 52-60. Date of Electronic Publication: 2023 Oct 26.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.

Authors: Uctepe E Erguner B Sonmez FM

Source: Clinical dysmorphology [Clin Dysmorphol] 2023 Oct 01; Vol. 32 (4), pp. 180-183. Date of Electronic Publication: 2023 Aug 10.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.

Authors: Uctepe E Esen FN Tümer S et al.

Source: Intractable & rare diseases research [Intractable Rare Dis Res] 2022 Nov; Vol. 11 (4), pp. 219-221.

Publication Type: Journal Article

Journal Info: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE

Osteopontin silencing attenuates bleomycin-induced murine pulmonary fibrosis by regulating epithelial-mesenchymal transition.

Authors: Hatipoglu OF Uctepe E Opoku G et al.

Source: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie [Biomed Pharmacother] 2021 Jul; Vol. 139, pp. 111633. Date of Electronic Publication: 2021 May 08.

Publication Type: Journal Article

Journal Info: Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 8213295 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6007 (Electronic) Linking ISSN: 07533322 NLM ISO Abbreviation: Biomed Pharmacother Subsets: MEDLINE

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors: van der Sluijs PJ Jansen S Vergano SA et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2160-2161.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors: van der Sluijs PJ Jansen S Vergano SA et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1295-1307. Date of Electronic Publication: 2018 Nov 08.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.

Authors: Sonmez FM Uctepe E Aktas D et al.

Source: Intractable & rare diseases research [Intractable Rare Dis Res] 2017 Feb; Vol. 6 (1), pp. 61-64.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.

Authors: Sonmez FM Uctepe E Gunduz M et al.

Source: Intractable & rare diseases research [Intractable Rare Dis Res] 2016 Aug; Vol. 5 (3), pp. 222-6.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE