| | Title | Authors / Editors | Date |
|
unige:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
|
unige:95968 |
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy |
French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium |
2016 |
|
unige:162715 |
A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family |
Belhedi, Nejla; Sloan Bena, Frédérique; Mrabet, Amel; Guipponi, Michel; ... Salzmann, Annick |
2013 |
|
unige:34648 |
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus |
Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos |
2012 |
|
unige:34656 |
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? |
Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand |
2012 |
|
unige:161989 |
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy |
Salzmann, Annick; Guipponi, Michel; Lyons, Peter J; Fricker, Lloyd D; ... Malafosse, Alain |
2012 |
|
unige:32205 |
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report |
Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam |
2011 |
|
unige:32728 |
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family |
Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite |
2011 |
|
unige:8999 |
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream |
Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite |
2009 |
|
unige:9051 |
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia |
Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis |
2009 |
|
unige:1797 |
Candidate gene analysis in three families with acilia syndrome |
Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. |
2008 |
|
unige:8741 |
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient |
Farah, R. A.; De Moerloose, Philippe; Bouchardy, Isabelle; Morris, Michael Andréw; ... Neerman Arbez, Marguerite |
2006 |
|
unige:8920 |
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis |
Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala |
2006 |
|
unige:8937 |
Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family |
Neerman Arbez, Marguerite; Vu, Dung; Abu-Libdeh, Bassam; Bouchardy, Isabelle; Morris, Michael Andréw |
2003 |
|
unige:8638 |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness |
Ben-Yosef, T.; Wattenhofer, M.; Riazuddin, S.; Ahmed, Z. M.; ... Morell, R. J. |
2001 |
|
unige:8888 |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness |
Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel |
2001 |
|
unige:9029 |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness |
Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos |
2001 |
|
unige:11089 |
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B |
Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. |
2000 |
|
unige:8935 |
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency |
Neerman Arbez, Marguerite; Johnson, K. M.; Morris, Michael Andréw; McVey, J. H.; ... Tuddenham, E. G. |
1999 |
Consanguinity
add all
remove all
