Full Text Journal Articles by
Author Kenneth McElreavey

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A missense mutation in NR5A1 causing female to male sex reversal: A case report.

Masomeh Askari, Mandana Rastari, Mehrshad Seresht-Ahmadi, Kenneth McElreavey, Anu Bashamboo, Maryam Razzaghy-Azar, Mehdi Totonchi,

Testicular disorder of sex development (TDSD) is a rare condition, characterised by a female karyotype, male phenotype, small testes and cryptorchidism. Only a few studies have investigated the genetic causes of male sex reversal. This is the clinical report of an Iranian 46,XX patient presented with TDSD and associated with ... Read more >>

Andrologia (Andrologia)
[2020, 52(6):e13585]

Cited: 0 times

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Identification of a homozygous GFPT2 variant in a family with asthenozoospermia.

Masomeh Askari, Dor Mohammad Kordi-Tamandani, Navid Almadani, Kenneth McElreavey, Mehdi Totonchi,

PURPOSE:Asthenozoospermia (ASZ) is a condition characterized by reduced sperm motility in semen affecting approximately 19% of infertile men. Major risk factors, particularly gene mutations, still remain unknown. The main aim of the present study was to identify novel genes and mutations that may influence human sperm motility. METHODS:Whole-exome sequencing (WES) ... Read more >>

Gene (Gene)
[2019, 699:16-23]

Cited: 1 time

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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.

Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud,

BACKGROUND:Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co-occurrence of two or more diseases. METHODS:We report here on a consanguineous Libyan family whose child was initially ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(7):e00694]

Cited: 1 time

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Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard,

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, 62(9):103539]

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A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.

Inas Mazen, Kenneth McElreavey, Maha M Eid, Anu Bashamboo, Ghada Kamah,

Fanconi anemia (FA) is a pleiotropic condition with 2 characteristic phenotypic markers of hematological and cytogenetic changes. The phenotype of patients with FA is very heterogeneous, associated with an array of congenital malformations affecting the skeletal, renal, genital, and/or central nervous systems. Here, we report on a 46,XY female who ... Read more >>

Sex Dev (Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
[2018, :]

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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

Mariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, Meriem Jones, Yosra Bouyacoub, Majdi Nagara, Tommaso Pippucci, Haifa Jmel, Mariem Chargui, Manel Jerbi, Mohamed Alibi, Hamza Dallali, Anu Bashamboo, Kenneth McElreavey, Giovanni Romeo, Abdelhamid Barakat, Mohamed Zghal, Houda Yacoub-Youssef, Sonia Abdelhak,

Skin cancers (SC) are complex diseases that develop from complex combinations of genetic and environmental risk factors. One of the most severe and rare genetic diseases predisposing to SC is the Xeroderma pigmentosum (XP) syndrome.First, to identify the genetic etiology of XP and to better classify affected patients. Second, to ... Read more >>

J. Dermatol. Sci. (Journal of dermatological science)
[2018, 89(2):172-180]

Cited: 3 times

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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Majdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Konstantinos Voskarides, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak,

AIM OF THE STUDY:Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2018, 61(1):1-7]

Cited: 1 time

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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

Mariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, Meriem Jones, Yosra Bouyacoub, Majdi Nagara, Tommaso Pippucci, Haifa Jmel, Mariem Chargui, Manel Jerbi, Mohamed Alibi, Hamza Dallali, Anu Bashamboo, Kenneth McElreavey, Giovanni Romeo, Abdelhamid Barakat, Mohamed Zghal, Houda Yacoub-Youssef, Sonia Abdelhak,

Background Skin cancers (SC) are complex diseases that develop from complex combinations of genetic and environmental risk factors. One of the most severe and rare genetic diseases predisposing to SC is the Xeroderma pigmentosum (XP) syndrome. Objectives First, to identify the genetic etiology of XP and to better classify affected ... Read more >>

J. Dermatol. Sci. (Journal of dermatological science)
[2017, :]

Cited: 1 time

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Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.

Nadia Laroussi, Olfa Messaoud, Mariem Chargui, Chaima Ben Fayala, Abdelaziz Elahlafi, Mourad Mokni, Anu Bashamboo, Kenneth McElreavey, Mohamed Samir Boubaker, Houda Yacoub Youssef, Sonia Abdelhak,

Ann Dermatol (Annals of dermatology)
[2017, 29(2):243-246]

Cited: 1 time

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A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing.

Rita Bertalan, Osnat Admoni, Anu Bashamboo, Yardena Tenenbaum-Rakover, Kenneth McElreavey,

Clin. Endocrinol. (Oxf) (Clinical endocrinology)
[2017, 87(4):407-408]

Cited: 0 times

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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stephanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S Krishnakumar, , Matthew Pitt, Oscar D Bello, James E Rothman, Lina Basel-Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y Manzur, Brunhilde Wirth, Henry Houlden,

We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low ... Read more >>

Ann. Neurol. (Annals of neurology)
[2017, 81(4):597-603]

Cited: 14 times

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Steroidogenic Factor-1 (SF-1, NR5A1) and
46,XX Ovotesticular Disorders of Sex Development:
One Factor, Many Phenotypes.

Kenneth McElreavey, John C Achermann,

Horm Res Paediatr (Hormone research in paediatrics)
[2017, 87(3):189-190]

Cited: 2 times

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Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
.

Supamit Ukarapong, Gary Berkovitz, Kenneth McElreavey, Anu Bashamboo, Yong Bao,

Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of ... Read more >>

Clin. Nephrol. (Clinical nephrology)
[2016, 86 (2016)(12):341-344]

Cited: 0 times

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Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases.

Sarah Winter, Aldjia Ousidhoum, Kenneth McElreavey, Raja Brauner,

The mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition. Familial forms of constitutional delay of puberty (CDP) suggest the involvement of genetic factors. The purpose of this study is to describe ... Read more >>

BMC Pediatr (BMC pediatrics)
[2016, 16:37]

Cited: 1 time

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An ancient protein-DNA interaction underlying metazoan sex determination.

Mark W Murphy, John K Lee, Sandra Rojo, Micah D Gearhart, Kayo Kurahashi, Surajit Banerjee, Guy-André Loeuille, Anu Bashamboo, Kenneth McElreavey, David Zarkower, Hideki Aihara, Vivian J Bardwell,

DMRT transcription factors are deeply conserved regulators of metazoan sexual development. They share the DM DNA-binding domain, a unique intertwined double zinc-binding module followed by a C-terminal recognition helix, which binds a pseudopalindromic target DNA. Here we show that DMRT proteins use a unique binding interaction, inserting two adjacent antiparallel ... Read more >>

Nat. Struct. Mol. Biol. (Nature structural & molecular biology)
[2015, 22(6):442-451]

Cited: 24 times

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, Muhammad Sajid Hussain, Louise S Bicknell, Andrea Leitch, Gudrun Nürnberg, Mohammad Reza Toliat, Jennie E Murray, David Hunt, Fawad Khan, Zafar Ali, Sigrid Tinschert, James Ding, Charlotte Keith, Margaret E Harley, Patricia Heyn, Rolf Müller, Ingrid Hoffmann, Valérie Cormier-Daire, Hélène Dollfus, Lucie Dupuis, Anu Bashamboo, Kenneth McElreavey, Ariana Kariminejad, Roberto Mendoza-Londono, Anthony T Moore, Anand Saggar, Catie Schlechter, Richard Weleber, Holger Thiele, Janine Altmüller, Wolfgang Höhne, Matthew E Hurles, Angelika Anna Noegel, Shahid Mahmood Baig, Peter Nürnberg, Andrew P Jackson,

Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical features of ciliopathies. Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals ... Read more >>

Nat. Genet. (Nature genetics)
[2014, 46(12):1283-1292]

Cited: 73 times

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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit,

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, ... Read more >>

PLoS ONE (PloS one)
[2014, 9(6):e99797]

Cited: 12 times

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A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.

Nirmala Dushyanthi Sirisena, Kenneth McElreavey, Anu Bashamboo, K Shamya H de Silva, Rohan W Jayasekara, Vajira H W Dissanayake,

The objective of this study was to identify disease-causing mutations in a Sri Lankan male child presenting with ambiguous genitalia and psychomotor delay using the exome sequencing approach. A novel mutation in the aristaless-related homeobox (ARX) gene causing a hemizygous nucleotide substitution in exon 5 was identified (NM_139058.2 (ARX): c.1614G>T; ... Read more >>

Sex Dev (Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
[2014, 8(4):156-159]

Cited: 3 times

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Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome.

Debbie Montjean, Célia Ravel, Moncef Benkhalifa, Paul Cohen-Bacrie, Isabelle Berthaut, Anu Bashamboo, Kenneth McElreavey,

OBJECTIVE: To characterize a potential genetic cause for methylation errors described in oligozoospermia. DESIGN: Analysis of PEG1/MEST-DMR and H19-DMR methylation level in sperm, in parallel with the study of several genes on the Y chromosome, DNMT3A, and DNMT3L. Clinical outcome was also looked at regarding PEG1/MEST-DMR and H19-DMR methylation level ... Read more >>

Fertil. Steril. (Fertility and sterility)
[2013, 100(5):1241-1247]

Cited: 19 times

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Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.

Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, Hélène Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, Pierre Alessandrini, Kathy Wagner, Jean Yves Kurzenne, Florence Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattea Orsini, Jean-Pierre Daures, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan,

BACKGROUND: Androgens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS). OBJECTIVE: The aim of this study was to determine ... Read more >>

PLoS ONE (PloS one)
[2013, 8(4):e61824]

Cited: 10 times

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Semen quality analysis of military personnel from six geographical areas of the People's Republic of China.

Zhikang Zou, Haixiang Hu, Manshu Song, Yanling Shen, Xiuhua Guo, Kenneth McElreavey, Alan H Bittles, Wei Wang,

OBJECTIVE: To examine the determinants of semen quality in a large sample of military personnel from different geographical areas of the People's Republic of China. DESIGN: Cross-sectional study. SETTING: Six representative geographical regions in China: Beihai, Lhasa, Germu, Xinzhou, Huhehaote, and Mohe. PATIENT(S): 1,194 army personnel aged 18 to 35 ... Read more >>

Fertil. Steril. (Fertility and sterility)
[2011, 95(6):2018-23, 2023.e1-3]

Cited: 15 times

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Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.

Tossaporn Seeherunvong, Supamit Ukarapong, Kenneth McElreavey, Gary D Berkovitz, Erasmo M Perera,

BACKGROUND: Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack ... Read more >>

J. Pediatr. Endocrinol. Metab. (Journal of pediatric endocrinology & metabolism : JPEM)
[2012, 25(1-2):121-123]

Cited: 3 times

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Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts.

Debbie Montjean, Moncef Benkhalifa, Lionel Dessolle, Paul Cohen-Bacrie, Stéphanie Belloc, Jean-Pierre Siffroi, Célia Ravel, Anu Bashamboo, Kenneth McElreavey,

OBJECTIVE: To investigate the relationship between MTHFR and MTRR genetic variants with respect to both blood plasma homocysteine concentration and sperm counts. DESIGN: Polymerase chain reaction followed by specific enzymatic digestion to determine the genotype of the individuals and blood plasma homocysteine quantification by high-performance liquid chromatography. SETTING: Research laboratory. ... Read more >>

Fertil. Steril. (Fertility and sterility)
[2011, 95(2):635-640]

Cited: 24 times

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