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Items: 1 to 20 of 562

1.
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
D Trump, P H Dixon, S Mumm, C Wooding, K E Davies, D Schlessinger, M P Whyte, R V Thakker
J Med Genet. 1998 Nov; 35(11): 905–909. doi: 10.1136/jmg.35.11.905
PMCID:
PMC1051482
SummaryPage BrowsePDF–962K
2.
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
V V Ionasescu, J Trofatter, J L Haines, A M Summers, R Ionasescu, C Searby
Am J Hum Genet. 1991 Jun; 48(6): 1075–1083.
PMCID:
PMC1683112
SummaryPage BrowsePDF–1.1M
3.
A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype
Nuo Si, Xiaolu Meng, Zhen Zhao, Weibo Xia, Xue Zhang
J Transl Med. 2019; 17: 138. Published online 2019 Apr 29. doi: 10.1186/s12967-019-1887-2
PMCID:
PMC6489244
AbstractArticlePDF–2.2M
4.
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
Hamza Chouk, Sarra Saad, Sarra Dimassi, Nadia Ghariani Fetoui, Ayda Bennour, Rima Gammoudi, Haifa Elmabrouk, Ali Saad, Mohamed Denguezli, Dorra H’mida
BMC Med Genomics. 2022; 15: 165. Published online 2022 Jul 26. doi: 10.1186/s12920-022-01319-4
PMCID:
PMC9317125
AbstractArticlePDF–2.0M
5.
A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness
Rong Yu, Kai Wang, Yuanping Xiong, Hongqun Jiang
Laryngoscope Investig Otolaryngol. 2022 Aug; 7(4): 1150–1154. Published online 2022 Jul 1. doi: 10.1002/lio2.850
PMCID:
PMC9392402
AbstractArticlePDF–1.1M
6.
Ocular findings and genomics of X-linked recessive disorders: A review
Asima Hassan, Yaser R Mir, Raja A H Kuchay
Indian J Ophthalmol. 2022 Jul; 70(7): 2386–2396. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_252_22
PMCID:
PMC9426149
AbstractArticlePDF–2.2M
7.
Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance
Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
Clin Case Rep. 2022 Sep; 10(9): e6347. Published online 2022 Sep 14. doi: 10.1002/ccr3.6347
PMCID:
PMC9474907
AbstractArticlePDF–622K
8.
X-linked recessive Kallmann syndrome: A case report
Ping Zhang, Jing-Yun Fu
World J Clin Cases. 2022 Sep 6; 10(25): 8990–8997. Published online 2022 Sep 6. doi: 10.12998/wjcc.v10.i25.8990
PMCID:
PMC9477064
AbstractArticlePDF–1.3M
9.
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients
Ming-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma
Diagnostics (Basel) 2022 Oct; 12(10): 2267. Published online 2022 Sep 20. doi: 10.3390/diagnostics12102267
PMCID:
PMC9600608
AbstractArticlePDF–817K
10.
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
Zsuzsanna Szűcs, Éva Pinti, Irén Haltrich, Orsolya Pálné Szén, Tibor Nagy, Endre Barta, Gábor Méhes, László Bidiga, Olga Török, Anikó Ujfalusi, Katalin Koczok, István Balogh
Int J Mol Sci. 2022 Nov; 23(21): 13076. Published online 2022 Oct 28. doi: 10.3390/ijms232113076
PMCID:
PMC9655586
AbstractArticlePDF–3.0M
11.
Characterization of X-Linked Recessive Lethal Mutations Affecting Embryonic Morphogenesis in Drosophila Melanogaster
D. F. Eberl, A. J. Hilliker
Genetics. 1988 Jan; 118(1): 109–120. doi: 10.1093/genetics/118.1.109
PMCID:
PMC1203254
SummaryPDF–2.2M
12.
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
Michael R. Bowl, M. Andrew Nesbit, Brian Harding, Elaine Levy, Andrew Jefferson, Emanuela Volpi, Karine Rizzoti, Robin Lovell-Badge, David Schlessinger, Michael P. Whyte, Rajesh V. Thakker
J Clin Invest. 2005 Oct 1; 115(10): 2822–2831. Published online 2005 Sep 15. doi: 10.1172/JCI24156
PMCID:
PMC1201662
AbstractArticlePDF–1.0M
13.
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
C Wallgren-Pettersson, A Clarke, F Samson, M Fardeau, V Dubowitz, H Moser, T Grimm, R J Barohn, P G Barth
J Med Genet. 1995 Sep; 32(9): 673–679. doi: 10.1136/jmg.32.9.673
PMCID:
PMC1051665
SummaryPage BrowsePDF–2.0M
14.
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation
Guannan He, Yan Yin, Jing Zhao, Xueyan Wang, Jiaxiang Yang, Xi Chen, Li Ding, Yan Bai
BMC Pediatr. 2019; 19: 250. Published online 2019 Jul 23. doi: 10.1186/s12887-019-1629-x
PMCID:
PMC6647267
AbstractArticlePDF–5.1M
15.
X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Korean J Pediatr. 2013 Mar; 56(3): 139–142. Published online 2013 Mar 18. doi: 10.3345/kjp.2013.56.3.139
PMCID:
PMC3611049
AbstractArticlePDF–1.2M
16.
Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.
D R FitzPatrick, L Strain, A E Thomas, D G Barr, A Todd, N M Smith, W G Scobie
J Med Genet. 1997 Aug; 34(8): 666–669. doi: 10.1136/jmg.34.8.666
PMCID:
PMC1051029
SummaryPage BrowsePDF–1019K
17.
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.
G S Pai, B Hane, M Joseph, R Nelson, L S Hammond, J F Arena, H A Lubs, R E Stevenson, C E Schwartz
J Med Genet. 1997 Jul; 34(7): 529–534. doi: 10.1136/jmg.34.7.529
PMCID:
PMC1050990
SummaryPage BrowsePDF–1.4M
18.
Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female
Gyda Hlin Skuladottir Jack, Karolina Malm-Willadsen, Anja Frederiksen, Dorte Glintborg, Marianne Andersen
Case Rep Neurol Med. 2013; 2013: 491790. Published online 2013 Jun 23. doi: 10.1155/2013/491790
PMCID:
PMC3705873
AbstractArticlePDF–506K
19.
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
L Tranebjaerg, C Schwartz, H Eriksen, S Andreasson, V Ponjavic, A Dahl, R E Stevenson, M May, F Arena, D Barker, et al.
J Med Genet. 1995 Apr; 32(4): 257–263. doi: 10.1136/jmg.32.4.257
PMCID:
PMC1050371
SummaryPage BrowsePDF–1.2M
20.
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.
R A Pagon, T D Bird, J C Detter, I Pierce
J Med Genet. 1985 Aug; 22(4): 267–273. doi: 10.1136/jmg.22.4.267
PMCID:
PMC1049446
SummaryPage BrowsePDF–1.0M

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