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Select item 109808841.

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients

Jianlong Zhuang, Na Zhang, Junyu Wang, Yuying Jiang, Hegan Zhang, Chunnuan Chen

Mol Genet Genomic Med. 2024 Apr; 12(4): e2429. Published online 2024 Mar 30. doi: 10.1002/mgg3.2429

PMCID:: PMC10980884

Article PDF–2.0M

Select item 109670012.

A case of mild partial androgen insensitivity syndrome in a juvenile boy

Fen Wang, Shiying Shao, Wentao He, Shuhong Hu

J Int Med Res. 2024 Mar; 52(3): 03000605241232520. Published online 2024 Mar 26. doi: 10.1177/03000605241232520

PMCID:: PMC10967001

Article PDF–389K

Select item 109385263.

A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism

Peng Zhou, Jin Wu

J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 91–94. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2022.2022-3-18

PMCID:: PMC10938526

Article PDF–204K

Select item 108689214.

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Carla Graziadio, Giorgio Adriano Paskulin

Sao Paulo Med J. 2011; 129(6): 428–432. Published online 2011 Dec 1. doi: 10.1590/S1516-31802011000600010

PMCID:: PMC10868921

Article PDF–507K

Select item 107201925.

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria

Suaad Hamsho, Mohammed Alaswad, Mouhammed Sleiay, Ayham Alhusseini

BMC Endocr Disord. 2023; 23: 274. Published online 2023 Dec 14. doi: 10.1186/s12902-023-01525-w

PMCID:: PMC10720192

Article PDF–1.2M

Select item 105385746.

Gene Dosage Changes in KCTD13 Result in Penile and Testicular Anomalies Via Diminished Androgen Receptor Function

Abhishek Seth, Armando Rivera, In-Seon Choi, Olga Medina-Martinez, Shaye Lewis, Marisol O’Neill, Alex Ridgeway, Joshua Moore, Carolina Jorgez, Dolores J. Lamb

FASEB J. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: FASEB J. 2022 Nov; 36(11): e22567. doi: 10.1096/fj.202200558R

PMCID:: PMC10538574

Article PDF–2.8M

Select item 104545677.

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature

Tommaso Aversa, Giovanni Luppino, Domenico Corica, Giorgia Pepe, Mariella Valenzise, Roberto Coco, Alessandra Li Pomi, Malgorzata Wasniewska

Genes (Basel) 2023 Aug; 14(8): 1631. Published online 2023 Aug 16. doi: 10.3390/genes14081631

PMCID:: PMC10454567

Article PDF–251K

Select item 103188928.

Variants in ALX4 and their association with genitourinary defects

Ching H. Chen, Juan C. Bournat, Nathan Wilken, Jill A. Rosenfeld, Jason Zhang, Abhishek Seth, Carolina J. Jorgez

Andrology. Author manuscript; available in PMC 2023 Jul 4.

Published in final edited form as: Andrology. 2020 Sep; 8(5): 1243–1255. Published online 2020 Jul 16. doi: 10.1111/andr.12815

PMCID:: PMC10318892

Article PDF–847K

Select item 102061309.

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 1009835910.

A novel DEAH-box helicase 37 mutation associated with differences of sex development

Yun Wan, Richeng Yu, Jianhua Luo, Ping Huang, Xingju Zheng, Liqun Sun, Kui Hu

Front Endocrinol (Lausanne) 2023; 14: 1059159. Published online 2023 Mar 30. doi: 10.3389/fendo.2023.1059159

PMCID:: PMC10098359

Article PDF–5.9M

Select item 1004875811.

The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes

Rosália Sá, Luís Ferraz, Alberto Barros, Mário Sousa

Genes (Basel) 2023 Mar; 14(3): 647. Published online 2023 Mar 4. doi: 10.3390/genes14030647

PMCID:: PMC10048758

Article PDF–678K

Select item 993855612.

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report

Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li

BMC Neurol. 2023; 23: 77. Published online 2023 Feb 18. doi: 10.1186/s12883-023-03121-w

PMCID:: PMC9938556

Article PDF–1005K

Select item 974755213.

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Felipe Martins Elias, Mirian Yumi Nishi, Maria Helena Palma Sircili, Rafael Loch Bastista, Nathalia Lisboa Gomes, Maria Tereza Martins Ferrari, Elaine Maria Frade Costa, Francisco Tibor Denes, Berenice Bilharinho Mendonca, Sorahia Domenice

Mol Genet Genomic Med. 2022 Dec; 10(12): e2084. Published online 2022 Nov 11. doi: 10.1002/mgg3.2084

PMCID:: PMC9747552

Article PDF–1.8M

Select item 974246714.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Jin Zhang, Kwan Leong Woo, Yongxiong Hai, Shimin Wang, Ying Lin, Ying Huang, Xiaofang Peng, HongShi Wu, Shaoling Zhang, Li Yan, Yan Li

Front Endocrinol (Lausanne) 2022; 13: 1020880. Published online 2022 Nov 28. doi: 10.3389/fendo.2022.1020880

PMCID:: PMC9742467

Article PDF–1.6M

Select item 954119315.

PSMC1 variant causes a novel neurological syndrome

Sarit Aharoni, Regina Proskorovski‐Ohayon, Ramesh Kumar Krishnan, Yuval Yogev, Ohad Wormser, Noam Hadar, Anna Bakhrat, Ismael Alshafee, Maya Gombosh, Nadav Agam, Libe Gradstein, Zamir Shorer, Raz Zarivach, Marina Eskin‐Schwartz, Uri Abdu, Ohad S. Birk

Clin Genet. 2022 Oct; 102(4): 324–332. Published online 2022 Aug 3. doi: 10.1111/cge.14195

PMCID:: PMC9541193

Article PDF–6.8M

Select item 949461616.

Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency

Yiping Cheng, Chao Xu, Jiangfei Yang, Xinli Zhou, Nan Chen

Mol Med Rep. 2022 Nov; 26(5): 338. Published online 2022 Sep 13. doi: 10.3892/mmr.2022.12854

PMCID:: PMC9494616

Article PDF–1.2M

Select item 923584217.

Expanding the phenotype of ATP6AP1 deficiency

Subit Barua, Sara Berger, Elaine M. Pereira, Vaidehi Jobanputra

Cold Spring Harb Mol Case Stud. 2022 Jun; 8(4): a006195. doi: 10.1101/mcs.a006195

PMCID:: PMC9235842

Article PDF–2.8M

Select item 918025818.

A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency

Maria Alessandra Saltarelli, Rossella Ferrante, Francesca Di Marcello, Daniela David, Silvia Valentinuzzi, Lucrezia Pilenzi, Luca Federici, Claudia Rossi, Liborio Stuppia, Stefano Tumini

Int J Environ Res Public Health. 2022 Jun; 19(11): 6880. Published online 2022 Jun 4. doi: 10.3390/ijerph19116880