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Select item 109066941.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Article PDF–406K

Select item 108743372.

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center

Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqian

Acta Neurol Belg. 2024; 124(1): 91–99. Published online 2023 Jul 31. doi: 10.1007/s13760-023-02333-8

PMCID:: PMC10874337

Article PDF–933K

Select item 108154653.

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo

Genes (Basel) 2024 Jan; 15(1): 130. Published online 2024 Jan 20. doi: 10.3390/genes15010130

PMCID:: PMC10815465

Article PDF–1.5M

Select item 106276264.

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review

Fangmei Luo, Meiling Lu, Lu Zhao, Ping Zhou

Medicine (Baltimore) 2023 Nov 3; 102(44): e34962. Published online 2023 Nov 3. doi: 10.1097/MD.0000000000034962

PMCID:: PMC10627626

Article PDF–542K

Select item 105787685.

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

Lifang Liu, Junsheng Li, Jiarui Li, Hui Hu, Jiao Liu, Ping Tang

Medicine (Baltimore) 2023 Oct 13; 102(41): e35471. Published online 2023 Oct 13. doi: 10.1097/MD.0000000000035471

PMCID:: PMC10578768

Article PDF–1.4M

Select item 102984336.

Molecular Modeling Analysis Provides Genotype–Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

Anna Douka, Lambros Goutzanis, Dimitrios Vlachakis, George P. Chrousos, Christos Yapijakis

Genes (Basel) 2023 Jun; 14(6): 1246. Published online 2023 Jun 10. doi: 10.3390/genes14061246

PMCID:: PMC10298433

Article PDF–2.9M

Select item 102984237.

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek

Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208

PMCID:: PMC10298423

Article PDF–401K

Select item 102572828.

Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report

Azli Ismail, Fadly Ahid, Meow-Keong Thong, Zubaidah Zakaria

J Med Case Rep. 2023; 17: 250. Published online 2023 Jun 10. doi: 10.1186/s13256-023-03984-0

PMCID:: PMC10257282

Article PDF–1.2M

Select item 100653889.

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

Jéssica Silva Soares, Renata Maria Rabello da Silva Lago, Maria Betânia Pereira Toralles, Laís Ribeiro Mota, Esmeralda Santos Alves, Acácia Fernandes Lacerda de Carvalho

Arch Endocrinol Metab. 2021; 65(6): 739–746. Published online 2021 Nov 11. doi: 10.20945/2359-3997000000403

PMCID:: PMC10065388

Article PDF–351K

Select item 980638410.

The clinical spectrum of a nonsense mutation in KAT6A: a case report

Dongbo Wang, Jun He, Xueyi Li, Shuyuan Yan, Linglin Pan, Tuanmei Wang, Liangrong Zhou, Jiyang Liu, Xiangwen Peng

J Int Med Res. 2022 Dec; 50(12): 03000605221140304. Published online 2022 Dec 26. doi: 10.1177/03000605221140304

PMCID:: PMC9806384

Article PDF–797K

Select item 929154011.

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos‐Xavier, Andrea Superti‐Furga

Am J Med Genet A. 2022 Jan; 188(1): 319–325. Published online 2021 Sep 28. doi: 10.1002/ajmg.a.62506

PMCID:: PMC9291540

Article PDF–1.6M

Select item 923502312.

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E. Posey, James R. Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Lumaka

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 27.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 990–994. Published online 2020 Dec 29. doi: 10.1002/ajmg.a.62049

PMCID:: PMC9235023

Article PDF–606K

Select item 892742213.

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype

Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger

Sci Rep. 2022; 12: 4489. Published online 2022 Mar 16. doi: 10.1038/s41598-022-08476-7

PMCID:: PMC8927422

Article PDF–2.9M

Select item 869568514.

Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review

Shanshan Liu, Meiping Chen, Hongbo Yang, Shi Chen, Linjie Wang, Lian Duan, Huijuan Zhu, Hui Pan

Front Endocrinol (Lausanne) 2021; 12: 776835. Published online 2021 Dec 9. doi: 10.3389/fendo.2021.776835

PMCID:: PMC8695685

Article PDF–2.8M

Select item 869171315.

A giant left internal iliac artery aneurysm in a patient with Loeys–Dietz syndrome

Ivan I Skopin, Valerii S Arakelyan, Nickolai A Tchurikov, Andrei M Belyaev

Interact Cardiovasc Thorac Surg. 2021 Nov; 33(5): 832–833. Published online 2021 May 9. doi: 10.1093/icvts/ivab157

PMCID:: PMC8691713

Article PDF–171K

Select item 846028316.

Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review

Makiho Ishibashi, Takafumi Watanabe, Hyo Kyozuka, Akiko Yamaguchi, Kenichi Sato, Maki Sato, Hayato Go, Keiya Fujimori

Fukushima J Med Sci. 2021; 67(2): 83–88. Published online 2021 May 15. doi: 10.5387/fms.2020-28

PMCID:: PMC8460283

Article PDF–275K

Select item 843078517.

Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome

Massimo Petruzzi, Alessandro Stella, Valeria Capra, Maria Contaldo, Fedora della Vella

Int J Environ Res Public Health. 2021 Sep; 18(17): 8957. Published online 2021 Aug 25. doi: 10.3390/ijerph18178957

PMCID:: PMC8430785

Article PDF–6.0M

Select item 820638718.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Eva Morava, Ulrich A. Schatz, Pernille M. Torring, Mary-Alice Abbott, Matthias Baumann, Charlotte Brasch-Andersen, Nathalie Chevalier, Ulrike Dunkhase-Heinl, Martin Fleger, Tobias B. Haack, Stephen Nelson, Sven Potelle, Silvia Radenkovic, Guido T. Bommer, Emile Van Schaftingen, Maria Veiga-da-Cunha

Am J Hum Genet. 2021 Jun 3; 108(6): 1151–1160. Published online 2021 May 11. doi: 10.1016/j.ajhg.2021.04.017