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Quoted phrase not found in phrase index: "Microcephaly 24, primary, autosomal recessive"
Page 1
Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N. Spiegel R, et al. J Inherit Metab Dis. 2022 May;45(3):456-469. doi: 10.1002/jimd.12488. Epub 2022 Mar 3. J Inherit Metab Dis. 2022. PMID: 35192225 Free PMC article.
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD-A], MoCD-B, and MoCD-C) that cause sulfite intoxication disorders. ...Prospective biomarker data were collected for 21 living MoCD patie …
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [M …
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H. Tsutsumi M, et al. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. doi: 10.1038/ejhg.2016.119. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650967 Free PMC article.
It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive microcephaly, although the association between centrosomal defects and the etiology of microcephaly syndromes is not fully underst …
It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive m …
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC. Arenas-Sordo Mde L, et al. Med Oral Patol Oral Cir Bucal. 2006 May 1;11(3):E236-8. Med Oral Patol Oral Cir Bucal. 2006. PMID: 16648759 Free article. Review.
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption …
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patient …
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Jouan L, et al. Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22. Eur J Hum Genet. 2016. PMID: 26197979 Free PMC article.
[Gly94Arg];[Asn1232Ser], in the protein encoded by the CDK5RAP2 gene, also known as MCPH3, a gene previously reported to cause autosomal recessive primary microcephaly. Our findings suggest a novel role for this gene in the pathogenesis of isolated ACC …
[Gly94Arg];[Asn1232Ser], in the protein encoded by the CDK5RAP2 gene, also known as MCPH3, a gene previously reported to cause autosomal …
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H. Trimborn M, et al. Hum Mutat. 2005 Nov;26(5):496. doi: 10.1002/humu.9382. Hum Mutat. 2005. PMID: 16211557
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by mental retardation and congenital microcephaly with a head circumference at least 4 SD below age and sex means, in the absence of other signif …
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by mental re …
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.
Xu S, Zhang W, Zhou R, Huang H, Chen W, Xiang W, Liu L, Song J. Xu S, et al. Clin Dysmorphol. 2022 Jan 1;31(1):1-5. doi: 10.1097/MCD.0000000000000395. Clin Dysmorphol. 2022. PMID: 34693918
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from China. Here, …
Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high …
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L. Limoge F, et al. Hum Mol Genet. 2015 Dec 1;24(23):6603-13. doi: 10.1093/hmg/ddv366. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358774
Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation secondary to mutations in the VPS13B gene, which encodes a protein of the Golgi apparatus. ...To understand the mechanisms involved in CS fat storage, we used two models of adip …
Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation secondary to mutations in the VPS13B …
"An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome".
Hashim AS, Al-Obaidi MN, Al-Obaidi AD, Saleh SA, Hashim HT, Al Saeedi M, Ataallah B. Hashim AS, et al. BMC Pediatr. 2024 May 11;24(1):327. doi: 10.1186/s12887-024-04714-1. BMC Pediatr. 2024. PMID: 38773407 Free PMC article.
INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. ...CONCLUSION: The primary features of DS involve severe insulin resistance and growth a …
INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder …
A novel single base pair duplication in WDR62 causes primary microcephaly.
Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A. Rupp V, et al. BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4. BMC Med Genet. 2014. PMID: 25303973 Free PMC article.
BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. CASE PRESENTATION: In this study we report on three Pakistani …
BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with …