Search Results - "Mutlu MB"

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.

Authors: Mutlu MB Öğütlü ÖBG Öz Ö et al.

Source: Human mutation [Hum Mutat] 2026 Jun 11; Vol. 2026, pp. 3130383. Date of Electronic Publication: 2026 Jun 11 (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

A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism.

Authors: Aynacı S Kocagil S Yarar C et al.

Source: Molecular syndromology [Mol Syndromol] 2025 Dec; Vol. 16 (6), pp. 631-639. Date of Electronic Publication: 2025 Mar 25.

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

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Authors: Sanri A Cetin TK Acikgoz EG et al.

Source: Pediatric diabetes [Pediatr Diabetes] 2025 Dec 01; Vol. 2025, pp. 4035026. Date of Electronic Publication: 2025 Dec 01 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: United States NLM ID: 100939345 Publication Model: eCollection Cited Medium: Internet ISSN: 1399-5448 (Electronic) Linking ISSN: 1399543X NLM ISO Abbreviation: Pediatr Diabetes Subsets: MEDLINE

Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis.

Authors: Erdem S Bayrak Tokaç AG Aday A et al.

Source: BMC cancer [BMC Cancer] 2025 Nov 03; Vol. 25 (1), pp. 1687. Date of Electronic Publication: 2025 Nov 03.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407 (Electronic) Linking ISSN: 14712407 NLM ISO Abbreviation: BMC Cancer Subsets: MEDLINE

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic Pathway.

Authors: Kılıçaslan F Çetin ARO Öz Ö et al.

Source: Developmental neurobiology [Dev Neurobiol] 2026 Jul; Vol. 86 (3), pp. e70051.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley Subscription Services, Inc Country of Publication: United States NLM ID: 101300215 Publication Model: Print Cited Medium: Internet ISSN: 1932-846X (Electronic) Linking ISSN: 19328451 NLM ISO Abbreviation: Dev Neurobiol Subsets: MEDLINE

Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency.

Authors: Mutlu MB Topçu V Çetinkaya ŞE et al.

Source: Turkish journal of obstetrics and gynecology [Turk J Obstet Gynecol] 2026 Jun 04; Vol. 23 (2), pp. 139-145. Date of Electronic Publication: 2026 May 11.

Publication Type: Journal Article

Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101656661 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2149-9322 (Print) Linking ISSN: 21499330 NLM ISO Abbreviation: Turk J Obstet Gynecol Subsets: PubMed not MEDLINE

Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].

Authors: Aynekin B Lau T Kaiyrzhanov R et al.

Source: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2026 Jun; Vol. 1872 (5), pp. 168222. Date of Electronic Publication: 2026 Mar 11.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE; In Process

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review.

Authors: Ağır H Sunar İ Mutlu MB

Source: Molecular syndromology [Mol Syndromol] 2025 May; Vol. 16 (3), pp. 223-234. Date of Electronic Publication: 2024 Nov 13.

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

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.

Authors: Yilmaz S Avci Durmusalioglu E Toprak Dogan DE et al.

Source: Journal of medical genetics [J Med Genet] 2026 Apr 16. Date of Electronic Publication: 2026 Apr 16.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Authors: De Pace R Dominguez Gonzalez CA Williamson CD et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Apr 02; Vol. 113 (4), pp. 736-753. Date of Electronic Publication: 2026 Mar 25.

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

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Authors: Aynekin B Lau T Kaiyrzhanov R et al.

Source: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2026 Apr; Vol. 1872 (4), pp. 168184. Date of Electronic Publication: 2026 Feb 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.

Authors: Sanri A Akca U Mutlu MB et al.

Source: Brain & development [Brain Dev] 2026 Feb; Vol. 48 (1), pp. 104498. Date of Electronic Publication: 2026 Jan 09.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

Utility of Optical Genome Mapping in Repeat Disorders.

Authors: Mutlu MB Karakaya T Çelebi HBG et al.

Source: Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 188-195. Date of Electronic Publication: 2024 Oct 22.

Publication Type: Journal Article

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

Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method.

Authors: Kılıçaslan F Öz Ö Mutlu MB

Source: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2025 Feb; Vol. 85 (1), pp. e10397. Date of Electronic Publication: 2024 Nov 30.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 8401784 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-474X (Electronic) Linking ISSN: 07365748 NLM ISO Abbreviation: Int J Dev Neurosci Subsets: MEDLINE

Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies.

Authors: Sanri A Mutlu MB Sezer O

Source: Cytogenetic and genome research [Cytogenet Genome Res] 2026; Vol. 166 (3), pp. 144-177. Date of Electronic Publication: 2025 Nov 06.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Viral diversity of brine and precipitated halite of Tuz Lake, an inland hypersaline lake in Turkey.

Authors: Senel E Ramos-Barbero MD Santos F et al.

Source: Archives of virology [Arch Virol] 2025 Dec 18; Vol. 171 (1), pp. 28. Date of Electronic Publication: 2025 Dec 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 7506870 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-8798 (Electronic) Linking ISSN: 03048608 NLM ISO Abbreviation: Arch Virol Subsets: MEDLINE

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Authors: Yalçın HY Cinleti T Yel S et al.

Source: Molecular syndromology [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 240-246. Date of Electronic Publication: 2024 Jan 24.

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

Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.

Authors: Sanri A Mutlu MB

Source: Molecular syndromology [Mol Syndromol] 2025 Oct 23. Date of Electronic Publication: 2025 Oct 23.

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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Authors: De Pace R Gonzalez CD Williamson CD et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jul 17. Date of Electronic Publication: 2025 Jul 17.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Authors: Kiraz A Erdogan M Balta B et al.

Source: Neurogenetics [Neurogenetics] 2025 May 31; Vol. 26 (1), pp. 47. Date of Electronic Publication: 2025 May 31.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE