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Items: 1 to 20 of 34

1.

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS.

Hum Genet. 2020 Jan 20. doi: 10.1007/s00439-020-02117-7. [Epub ahead of print]

PMID:
31960134
2.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
3.

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS.

Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. doi: 10.1016/j.ajhg.2019.09.020. Epub 2019 Oct 17.

PMID:
31630791
4.

A de novo mutation in FMR1 in a patient with intellectual disability.

Maddirevula S, Alsaif HS, Ibrahim N, Alkuraya FS.

Eur J Med Genet. 2019 Sep 10:103763. doi: 10.1016/j.ejmg.2019.103763. [Epub ahead of print] No abstract available.

PMID:
31518692
5.

Prevalence of and risk factors for poor sleep quality among residents in training in KSA.

AlSaif HI.

J Taibah Univ Med Sci. 2018 Dec 20;14(1):52-59. doi: 10.1016/j.jtumed.2018.11.007. eCollection 2019 Feb.

6.

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW.

Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22.

PMID:
31209944
7.

The accuracy of computed tomography in detecting surgically resectable blebs or bullae in primary spontaneous pneumothorax.

Almajid FM, Aljehani YM, Alabkary S, Alsaif HS.

Radiol Med. 2019 Sep;124(9):833-837. doi: 10.1007/s11547-019-01044-6. Epub 2019 May 27.

PMID:
31134432
8.

Awareness, acceptance, and perspective of women for reconstruction post Mastectomy.

Alkaff TM, AlTaleb RM, Kattan AE, Alsaif HK, Murshid RE, AlShaibani TJ.

J Pak Med Assoc. 2019 Jan;69(1):141-145.

9.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.

10.

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS.

Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25.

PMID:
30250217
11.

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS.

Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.

12.

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzmán-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS.

Brain. 2018 Jul 1;141(7):1934-1945. doi: 10.1093/brain/awy135.

13.

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS.

Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.

PMID:
29620724
14.

Congenital glaucoma and CYP1B1: an old story revisited.

Alsaif HS, Khan AO, Patel N, Alkuraya H, Hashem M, Abdulwahab F, Ibrahim N, Aldahmesh MA, Alkuraya FS.

Hum Genet. 2019 Sep;138(8-9):1043-1049. doi: 10.1007/s00439-018-1878-z. Epub 2018 Mar 19.

PMID:
29556725
15.

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, Nabil A, Al-Owain M, Sogati S, Salih MA, Kamal AM, Alsharif H, Alsaif HS, Alzahrani SS, Abdulwahab F, Ibrahim N, Hashem M, Faquih T, Shah ZA, Abouelhoda M, Monies D, Dasouki M, Shaheen R, Wakil SM, Aldahmesh MA, Alkuraya FS.

Clin Genet. 2018 Jun;93(6):1210-1222. doi: 10.1111/cge.13239. Epub 2018 Mar 25.

PMID:
29450879
16.

Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax?

Aljehani Y, Almajid F, Alsaif H.

Emerg Radiol. 2018 Jun;25(3):299-302. doi: 10.1007/s10140-018-1588-9. Epub 2018 Feb 6.

PMID:
29411175
17.

Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities.

Al-Saif FM, Baqays AA, AlSaif HF, Alhumidi AA.

Clin Case Rep. 2017 Aug 16;5(10):1576-1579. doi: 10.1002/ccr3.1095. eCollection 2017 Oct.

18.

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, Ibrahim N, Abdulwahab F, Arold ST, Alkuraya FS.

Am J Hum Genet. 2017 Oct 5;101(4):603-608. doi: 10.1016/j.ajhg.2017.08.009. Epub 2017 Sep 28.

19.

Myofibroblast-Mediated Contraction.

Kattan WM, Alarfaj SF, Alnooh BM, Alsaif HF, Alabdul Karim HS, Al-Qattan NM, Al-Qattan MM, El-Sayed AA.

J Coll Physicians Surg Pak. 2017 Jan;27(1):38-43. doi: 2519. Review.

PMID:
28292367
20.

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

Ramadan W, Patel N, Anazi S, Kentab AY, Bashiri FA, Hamad MH, Jad L, Salih MA, Alsaif H, Hashem M, Faqeih E, Shamseddin HE, Alkuraya FS.

Clin Genet. 2017 Sep;92(3):327-331. doi: 10.1111/cge.12999. Epub 2017 Apr 19.

PMID:
28218389

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