Works matching DE "WOLF-Hirschhorn syndrome"
Results: 46
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
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- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
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- Article
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
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- 2018
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- Publication type:
- journal article
Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.
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- 2021
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- Publication type:
- Case Study
LETM1 is required for mitochondrial homeostasis and cellular viability.
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- Molecular Medicine Reports, 2019, v. 19, n. 5, p. 3367
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- Publication type:
- Article
Clinical characterization and proposed mechanism of juvenile glaucoma—A patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.
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- Ophthalmic Genetics, 2010, v. 31, n. 3, p. 135, doi. 10.3109/13816810.2010.486775
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- Article
Greek Warrior Helmet Facies (Wolf-hirschhorn Syndrome).
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- 2014
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- Publication type:
- Case Study
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 464, doi. 10.1038/ejhg.2013.192
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- Article
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 33, doi. 10.1038/ejhg.2011.135
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- Article
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168
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- Article
Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
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- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201915
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- Article
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899
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- Article
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 797, doi. 10.1038/sj.ejhg.5201203
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- Article
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
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- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200498
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- Article
Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome.
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- 2017
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- Publication type:
- Case Study
EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome.
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- 2016
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- Publication type:
- journal article
Inflammatory Myofibroblastic Bladder Tumor in a Patient with Wolf-Hirschhorn Syndrome.
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- Case Reports in Urology, 2013, p. 1, doi. 10.1155/2013/675059
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- Article
Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.
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- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0190-z
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- Article
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.
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- 2014
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- Publication type:
- Case Study
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-45
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- Article
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.
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- 2012
- Publication type:
- Case Study
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0251-5
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- Article
Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf–Hirschhorn syndrome candidate 1/Twist pathway.
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- Carcinogenesis, 2013, v. 34, n. 11, p. 2600, doi. 10.1093/carcin/bgt281
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- Article
Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.
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- 2018
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- Publication type:
- Case Study
Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0330-8
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- Article
LETM1-dependent mitochondrial Ca<sup>2+</sup> flux modulates cellular bioenergetics and proliferation.
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- FASEB Journal, 2014, v. 28, n. 11, p. 4936, doi. 10.1096/fj.14-256453
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- Article
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome.
- Published in:
- 2016
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- Publication type:
- Letter
Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age).
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- European Journal of Pediatrics, 2008, v. 167, n. 7, p. 807, doi. 10.1007/s00431-007-0595-8
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- Article
Wolf-Hirschhorn Syndrome; Oro-Dental Manifestations and Management.
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- 2009
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- Publication type:
- Case Study
Wolf–Hirschhorn syndrome– two case-study reports focusing particularly on long-term survival.
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- Journal of Intellectual Disability Research, 2005, v. 49, n. 3, p. 228, doi. 10.1111/j.1365-2788.2005.00639.x
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- Publication type:
- Article
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.
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- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/878796
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- Article
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.
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- Cytogenetic & Genome Research, 2017, v. 150, n. 1, p. 17, doi. 10.1159/000452237
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- Article
Chromosomal deletion syndromes: common types, causes and detection methods.
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- Journal of Applied Health Sciences, 2023, v. 9, n. 2, p. 247, doi. 10.24141/1/9/2/13
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- Article
Airway Management in a Patient with Wolf-Hirschhorn Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.
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- Alternative Therapies in Health & Medicine, 2023, v. 29, n. 8, p. 907
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- Article
PERINATALNA OPIEKA PALIATYWNA - OPIS DWÓCH PRZYPADKÓW CHORYCH Z ZESPOŁEM WOLFA-HIRSCHHORNA.
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- Przeglad Pediatryczny, 2010, v. 40, n. 4, p. 249
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- Article
Epilepsy in Wolf-Hirschhorn Syndrome (4p-).
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- Epilepsia (Series 4), 2005, v. 46, n. 1, p. 150, doi. 10.1111/j.0013-9580.2005.02804.x
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- Article
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome.
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- Journal of Minimal Access Surgery, 2017, v. 13, n. 2, p. 135, doi. 10.4103/0972-9941.195567
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- Article
A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome.
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- 2013
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- Publication type:
- Report
Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics.
- Published in:
- Journal of Maternal-Fetal & Neonatal Medicine, 2013, v. 26, n. 9, p. 941, doi. 10.3109/14767058.2013.765855
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- Article
Wolf-Hirschhorn syndrome - a case report.
- Published in:
- 2017
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- Publication type:
- Case Study
Microarray analysis of unbalanced translocation in Wolf- Hirschhorn syndrome.
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- Pediatrics International, 2013, v. 55, n. 3, p. 368, doi. 10.1111/j.1442-200X.2012.03684.x
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- Article
Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 286, doi. 10.3390/ijms20020286
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- Article
RARE CASE OF WOLF-HIRSCHHORN INVOLVING THE GENES PIGG AND PAOX.
- Published in:
- 2020
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- Publication type:
- Case Study
Positional Central Sleep Apnea in a Child with Cervical Instability.
- Published in:
- 2021
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- Publication type:
- journal article
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 6, p. 849, doi. 10.1111/epi.12617
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- Publication type:
- Article