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Items: 12

Select item 108152301.

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum

Justyna Frasuńska, Agnieszka Pollak, Paweł Turczyn, Anna Kutkowska-Kaźmierczak, Jakub Pepłowski, Rafał Płoski, Beata Tarnacka

Genes (Basel) 2024 Jan; 15(1): 125. Published online 2024 Jan 19. doi: 10.3390/genes15010125

PMCID:: PMC10815230

Abstract Article PDF–2.3M

Select item 100603562.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit

Hum Genet. 2023; 142(4): 543–552. Published online 2023 Mar 21. doi: 10.1007/s00439-023-02528-2

PMCID:: PMC10060356

Abstract Article PDF–1.6M

Select item 98805673.

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Joana Pereira-Nunes, Ana Vilan, Ana Grangeia, Renata d’Oliveira

J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096221150637. Published online 2023 Jan 24. doi: 10.1177/23247096221150637

PMCID:: PMC9880567

Abstract Article PDF–909K

Select item 93361564.

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

Ital J Pediatr. 2022; 48: 133. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01329-z

PMCID:: PMC9336156

Abstract Article PDF–990K

Select item 88410855.

Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review

Ying Li, Chuangwen Zhang, Hongyu Zhang, Weiqi Feng, Qiuji Wang, Ruixin Fan

BMC Med Genomics. 2022; 15: 27. Published online 2022 Feb 12. doi: 10.1186/s12920-022-01160-9

PMCID:: PMC8841085

Abstract Article PDF–1.8M

Select item 73043606.

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, James M. McGrath, Saquib A. Lakhani

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005207. doi: 10.1101/mcs.a005207

PMCID:: PMC7304360

Abstract Article PDF–2.2M

Select item 72782017.

A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene

Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang, Songmei Geng

BMC Med Genet. 2020; 21: 126. Published online 2020 Jun 8. doi: 10.1186/s12881-020-01060-8

PMCID:: PMC7278201

Abstract Article PDF–1.0M

Select item 45147088.

Therapy of collagen VI-related myopathies (Bethlem and Ullrich)

Luciano Merlini, Paolo Bernardi

Neurotherapeutics. 2008 Oct; 5(4): 613–618. Published online 2008 Oct 1. doi: 10.1016/j.nurt.2008.08.004

PMCID:: PMC4514708

Abstract Article PDF–80K

Select item 42195879.

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients

Lisa Schilling, Raimund Forst, Jürgen Forst, Albert Fujak

BMC Musculoskelet Disord. 2013; 14: 338. Published online 2013 Dec 1. doi: 10.1186/1471-2474-14-338

PMCID:: PMC4219587

Abstract Article PDF–2.9M

Select item 344907410.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Sahar Mansour, Marielle Swinkels, Paulien A Terhal, Louise C Wilson, Philip Rich, Lionel Van Maldergem, Petra JG Zwijnenburg, Christine M Hall, Stephen P Robertson, Ruth Newbury-Ecob

Eur J Hum Genet. 2012 Oct; 20(10): 1024–1031. Published online 2012 Apr 4. doi: 10.1038/ejhg.2012.57