PMC Articles for MedGen (Select 113157) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 191

<< First< Prev

Page of 10

Next >Last >>

Select item 87152921.

Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report

Ayman Khushaim, Atheer Albaradi, Abdulrahman Alsalim

Radiol Case Rep. 2022 Mar; 17(3): 667–669. Published online 2021 Dec 23. doi: 10.1016/j.radcr.2021.11.071

PMCID:: PMC8715292

Abstract Article PDF–806K

Select item 67716962.

Treatment of Café‐Au‐Lait Spots Using Q‐Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China

Bin Zhang, Yan Chu, Zigang Xu, Yujuan Sun, Li Li, Xiaofeng Han, Chen Wang, Li Wei, Yuanxiang Liu, Lin Ma

Lasers Surg Med. 2019 Oct; 51(8): 694–700. Published online 2019 May 25. doi: 10.1002/lsm.23097

PMCID:: PMC6771696

Abstract Article PDF–411K

Select item 55084703.

Successful surgical management of bilateral epiretinal membrane in a child with only café-au-lait spots

Swetha Sara Philip, Thomas Kuriakose, Geeta Chacko

Indian J Ophthalmol. 2017 Jun; 65(6): 531–533. doi: 10.4103/ijo.IJO_649_16

PMCID:: PMC5508470

Abstract Article PDF–911K

Select item 91194184.

Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots

Eugenia C. White, Jesse D. Sengillo, Galaxy Y. Cho, Mathieu F. Bakhoum, Stephen H. Tsang

Doc Ophthalmol. Author manuscript; available in PMC 2022 May 19.

Published in final edited form as: Doc Ophthalmol. 2018 Aug; 137(1): 9–14. Published online 2018 May 16. doi: 10.1007/s10633-018-9639-9

PMCID:: PMC9119418

Abstract Article PDF–1.0M

Select item 16277495.

Café-au-lait spots in schoolchildren.

R G Burwell, N J James, D I Johnston

Arch Dis Child. 1982 Aug; 57(8): 631–632. doi: 10.1136/adc.57.8.631

PMCID:: PMC1627749

Summary Page Browse PDF–302K

Select item 108953806.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

Mol Genet Genomic Med. 2024 Feb; 12(2): e2408. Published online 2024 Feb 26. doi: 10.1002/mgg3.2408

PMCID:: PMC10895380

Abstract Article PDF–1.1M

Select item 49954247.

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

Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz

Intractable Rare Dis Res. 2016 Aug; 5(3): 222–226. doi: 10.5582/irdr.2014.01040

PMCID:: PMC4995424

Abstract Article PDF–411K

Select item 49105568.

Prevalence of Café-au-Lait Spots in children with solid tumors

Anna Claudia Evangelista dos Santos, Benjamin Heck, Beatriz De Camargo, Fernando Regla Vargas

Genet Mol Biol. 2016 Apr-Jun; 39(2): 232–238. Published online 2016 May 24. doi: 10.1590/1678-4685-GMB-2015-0024

PMCID:: PMC4910556

Abstract Article PDF–449K

Select item 10517849.

Familial café au lait spots: a variant of neurofibromatosis type 1.

D Abeliovich, Z Gelman-Kohan, S Silverstein, I Lerer, J Chemke, S Merin, J Zlotogora

J Med Genet. 1995 Dec; 32(12): 985–986. doi: 10.1136/jmg.32.12.985

PMCID:: PMC1051784

Summary Page Browse PDF–389K

Select item 1124797110.

Cafe-au-lait spots with resistant hypertension are an indicator of pheochromocytoma: a rare case report

Meriam Amri, El Mehdi Tamir, Abdenasser Drighil, Rachida Habbal

Arch Peru Cardiol Cir Cardiovasc. 2024 Apr-Jun; 5(2): e351. Published online 2024 Jun 24. doi: 10.47487/apcyccv.v5i2.351

PMCID:: PMC11247971

Abstract Article PDF–358K

Select item 123555111.

Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene

Dieter Kaufmann, Ralf Müller, Britta Bartelt, Michael Wolf, Karin Kunzi-Rapp, Clemens Oliver Hanemann, Raimund Fahsold, Christian Hein, Walther Vogel, Günter Assum

Am J Hum Genet. 2001 Dec; 69(6): 1395–1400. Published online 2001 Oct 18. doi: 10.1086/324648

PMCID:: PMC1235551

Abstract Article PDF–179K

Select item 967032112.

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models

William K. Van Trigt, Kristen M. Kelly, Christopher C. W. Hughes

Front Hum Neurosci. 2022; 16: 1006027. Published online 2022 Nov 3. doi: 10.3389/fnhum.2022.1006027

PMCID:: PMC9670321

Abstract Article PDF–2.1M

Select item 849670513.

An approach to café au lait macules in primary care setting

Seereen R. Almuhaidib, Fajar A. Aldulijan, Najlaa A. Alkanaan, Abdulmohsin K. Almulhim, Khalid S. Alyami

J Family Community Med. 2021 Sep-Dec; 28(3): 217–219. Published online 2021 Sep 7. doi: 10.4103/jfcm.jfcm_161_21

PMCID:: PMC8496705

Abstract Article PDF–756K

Select item 419947914.

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis

Alexander Pemov, Heejong Sung, Paula L. Hyland, Jennifer L. Sloan, Sarah L. Ruppert, Andrea M. Baldwin, Joseph F. Boland, Sara E. Bass, Hyo Jung Lee, Kristine M. Jones, Xijun Zhang, NISC Comparative Sequencing Program, James C. Mullikin, Brigitte C. Widemann, Alexander F. Wilson, Douglas R. Stewart

PLoS Genet. 2014 Oct; 10(10): e1004575. Published online 2014 Oct 16. doi: 10.1371/journal.pgen.1004575

PMCID:: PMC4199479

Abstract Article PDF–492K

Select item 847882615.

Quantitative EEG Improves Prediction of Sturge-Weber syndrome in Infants with Port-Wine Birthmark

Ryan E. Gill, Bohao Tang, Lindsay Smegal, Jack H. Adamek, Danielle McAuliffe, Balaji M. Lakshmanan, Siddharth Srivastava, Angela M. Quain, Alison J. Sebold, Doris D.M. Lin, Eric H. Kossoff, Brian Caffo, Anne M. Comi, Joshua B. Ewen

Clin Neurophysiol. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Clin Neurophysiol. 2021 Oct; 132(10): 2440–2446. Published online 2021 Aug 5. doi: 10.1016/j.clinph.2021.06.030

PMCID:: PMC8478826

Abstract Article PDF–1.2M

Select item 799256016.

Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature

Sevgi Akarsu, Turna İlknur, Ceylan Avcı, Emel Fetil

Ann Dermatol. 2019 Oct; 31(5): 567–570. Published online 2019 Aug 30. doi: 10.5021/ad.2019.31.5.567

PMCID:: PMC7992560

Abstract Article PDF–2.6M

Select item 754960717.

Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1

Heejong Sung, Paula L. Hyland, Alexander Pemov, Jeremy A. Sabourin, Andrea M. Baldwin, Sara Bass, Kedest Teshome, Wen Luo, Frederick National Laboratory for Cancer Research, Brigitte C. Widemann, Douglas R. Stewart, Alexander F. Wilson

Mol Genet Genomic Med. 2020 Oct; 8(10): e1400. Published online 2020 Aug 31. doi: 10.1002/mgg3.1400