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Select item 110312431.

What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?

Nadia Merchant, Lynda E Polgreen, Ron G Rosenfeld

J Clin Endocrinol Metab. 2024 May; 109(5): e1410–e1414. Published online 2023 Dec 11. doi: 10.1210/clinem/dgad726

PMCID:: PMC11031243

Article

Select item 109117002.

Increased Proteolytic Activity of Serratia marcescens Clinical Isolate HU1848 Is Associated with Higher eepR Expression

Karla L. De Anda-Mora, Faviola Tavares-Carreón, Carlos Alvarez, Samantha Barahona, Miguel A. Becerril-García, Rogelio J. Treviño-Rangel, Rodolfo García-Contreras, Angel Andrade

Pol J Microbiol. 2024 Mar; 73(1): 11–20. Published online 2024 Mar 4. doi: 10.33073/pjm-2024-002

PMCID:: PMC10911700

Article PDF–261K

Select item 106979693.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome

Brian G. Ballios, Amarilla Mandola, Alaa Tayyib, Anupreet Tumber, Jenny Garkaby, Linda Vong, Elise Heon, Chaim M. Roifman, Ajoy Vincent

Eye (Lond) 2023 Dec; 37(18): 3734–3742. Published online 2023 May 24. doi: 10.1038/s41433-023-02581-1

PMCID:: PMC10697969

Article PDF–2.5M

Select item 104388824.

Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome

Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij

J Clin Endocrinol Metab. 2023 Sep; 108(9): e754–e768. Published online 2023 Mar 14. doi: 10.1210/clinem/dgad147

Correction in:: J Clin Endocrinol Metab. 2023 Jul; 108(7): e501.

PMCID:: PMC10438882

Article

Select item 102192945.

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis

Icela Palma-Lara, Patricia García Alonso-Themann, Javier Pérez-Durán, Ricardo Godínez-Aguilar, José Bonilla-Delgado, Damián Gómez-Archila, Ana María Espinosa-García, Manuel Nolasco-Quiroga, Georgina Victoria-Acosta, Adolfo López-Ornelas, Juan Carlos Serrano-Bello, María Guadalupe Olguín-García, Carmen Palacios-Reyes

Int J Mol Sci. 2023 May; 24(10): 8904. Published online 2023 May 17. doi: 10.3390/ijms24108904

PMCID:: PMC10219294

Article PDF–3.6M

Select item 102061306.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II

Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street

Front Endocrinol (Lausanne) 2023; 14: 1018441. Published online 2023 May 10. doi: 10.3389/fendo.2023.1018441

PMCID:: PMC10206130

Article PDF–3.5M

Select item 99572737.

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation

Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane

Genes (Basel) 2023 Feb; 14(2): 497. Published online 2023 Feb 15. doi: 10.3390/genes14020497

PMCID:: PMC9957273

Article PDF–1.1M

Select item 99566278.

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Abu Bakar, Sulaiman Shams, Nousheen Bibi, Asmat Ullah, Wasim Ahmad, Musharraf Jelani, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Turki S. Abujamel, Absarul Haque, Muhammad Imran Naseer, Bushra Khan

Genes (Basel) 2023 Feb; 14(2): 510. Published online 2023 Feb 17. doi: 10.3390/genes14020510

PMCID:: PMC9956627

Article PDF–2.5M

Select item 97831519.

Ambra Butera, Antonio Gennaro Nicotera, Gabriella Di Rosa, Sebastiano Antonino Musumeci, Girolamo Aurelio Vitello, Antonino Musumeci, Mirella Vinci, Angelo Gloria, Concetta Federico, Salvatore Saccone, Francesco Calì

Int J Mol Sci. 2022 Dec; 23(24): 16130. Published online 2022 Dec 17. doi: 10.3390/ijms232416130

PMCID:: PMC9783151

Article PDF–1.3M

Select item 894731810.

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature

Xin Li, Ruen Yao, Guoying Chang, Qun Li, Cui Song, Niu Li, Yu Ding, Juan Li, Yao Chen, Yirou Wang, Xiaodong Huang, Yongnian Shen, Hao Zhang, Jian Wang, Xiumin Wang

J Clin Endocrinol Metab. 2022 Apr; 107(4): 972–985. Published online 2021 Nov 29. doi: 10.1210/clinem/dgab863

Correction in:: J Clin Endocrinol Metab. 2024 Apr; 109(4): e1372.

PMCID:: PMC8947318

Article

Select item 869323811.

A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)

Aurora Eslava, Montserrat Garcia-Puig, Raquel Corripio

Am J Case Rep. 2021; 22: e933919-1–e933919-5. Published online 2021 Dec 19. doi: 10.12659/AJCR.933919

PMCID:: PMC8693238

Article PDF–895K

Select item 834877712.

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes

Icela Palma-Lara, Monserrat Pérez-Ramírez, Patricia García Alonso-Themann, Ana María Espinosa-García, Ricardo Godinez-Aguilar, José Bonilla-Delgado, Adolfo López-Ornelas, Georgina Victoria-Acosta, María Guadalupe Olguín-García, José Moreno, Carmen Palacios-Reyes

Int J Mol Sci. 2021 Aug; 22(15): 8039. Published online 2021 Jul 27. doi: 10.3390/ijms22158039

PMCID:: PMC8348777

Article PDF–3.3M

Select item 825430113.

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo, Chong Kun Cheon

Orphanet J Rare Dis. 2021; 16: 297. Published online 2021 Jul 3. doi: 10.1186/s13023-021-01937-8

PMCID:: PMC8254301

Article PDF–1.6M

Select item 821568214.

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Salma Ben-Salem, Sarah M Robbins, Nara LM Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali

J Med Genet. Author manuscript; available in PMC 2021 Jun 21.

Published in final edited form as: J Med Genet. 2018 Feb; 55(2): 122–130. Published online 2017 Nov 9. doi: 10.1136/jmedgenet-2017-104827

PMCID:: PMC8215682

Article PDF–1.5M

Select item 820616715.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J. Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verheyen, Diana Johnson, Yuri A. Zarate, Miroslava Hančárová, David J. Amor, E. Martina Bebin, Jasmin Blatterer, Alfredo Brusco, Gerarda Cappuccio, Joel Charrow, Nicolas Chatron, Gregory M. Cooper, Thomas Courtin, Elena Dadali, Julien Delafontaine, Ennio Del Giudice, Martine Doco, Ganka Douglas, Astrid Eisenkölbl, Tara Funari, Giuliana Giannuzzi, Ursula Gruber-Sedlmayr, Nicolas Guex, Delphine Heron, Øystein L. Holla, Anna C.E. Hurst, Jane Juusola, David Kronn, Alexander Lavrov, Crystle Lee, Séverine Lorrain, Else Merckoll, Anna Mikhaleva, Jennifer Norman, Sylvain Pradervand, Darina Prchalová, Lindsay Rhodes, Victoria R. Sanders, Zdeněk Sedláček, Heidelis A. Seebacher, Elizabeth A. Sellars, Fabio Sirchia, Toshiki Takenouchi, Akemi J. Tanaka, Heidi Taska-Tench, Elin Tønne, Kristian Tveten, Giuseppina Vitiello, Markéta Vlčková, Tomoko Uehara, Caroline Nava, Binnaz Yalcin, Kenjiro Kosaki, Dian Donnai, Stefan Mundlos, Nicola Brunetti-Pierri, Wendy K. Chung, Alexandre Reymond

Am J Hum Genet. 2021 May 6; 108(5): 857–873. Published online 2021 May 6. doi: 10.1016/j.ajhg.2021.04.001

PMCID:: PMC8206167

Article PDF–3.5M

Select item 817058716.

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis

Harvy M. Velasco, Ehsan Ullah, Angela M. Martin, Robert B. Hufnagel, Carlos E. Prada

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2214–2221. Published online 2020 Aug 11. doi: 10.1002/ajmg.a.61782

PMCID:: PMC8170587

Article PDF–1.0M

Select item 816618217.

Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations

Naeimeh Jafari, Jason Del Rio, Madoka Akimoto, Jung Ah Byun, Stephen Boulton, Kody Moleschi, Yousif Alsayyed, Pascale Swanson, Jinfeng Huang, Karla Martinez Pomier, Chi Lee, Jian Wu, Susan S. Taylor, Giuseppe Melacini

Proc Natl Acad Sci U S A. 2021 May 25; 118(21): e2024716118. Published online 2021 May 18. doi: 10.1073/pnas.2024716118

PMCID:: PMC8166182

Article PDF–2.2M

Select item 815983018.

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?

Francesca Marta Elli, Giovanna Mantovani

Endocrine. 2021; 72(3): 611–618. Published online 2020 Nov 11. doi: 10.1007/s12020-020-02533-9

PMCID:: PMC8159830

Article PDF–626K

Select item 805103719.

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report

Gunda Petraitytė, Kamilė Šiaurytė, Violeta Mikštienė, Loreta Cimbalistienė, Dovilė Kriaučiūnienė, Aušra Matulevičienė, Algirdas Utkus, Eglė Preikšaitienė

BMC Endocr Disord. 2021; 21: 71. Published online 2021 Apr 15. doi: 10.1186/s12902-021-00741-6

PMCID:: PMC8051037

Article PDF–1.1M

Select item 803465120.

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

Anouk M Olthof, Alisa K White, Stephen Mieruszynski, Karen Doggett, Madisen F Lee, Almahdi Chakroun, Alice K Abdel Aleem, Justine Rousseau, Cinzia Magnani, Chaim M Roifman, Philippe M Campeau, Joan K Heath, Rahul N Kanadia

Nucleic Acids Res. 2021 Apr 6; 49(6): 3524–3545. Published online 2021 Feb 28. doi: 10.1093/nar/gkab118

PMCID:: PMC8034651

Article PDF–7.2M

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