OpenURL Connection Search

Select item for more details and to access through your institution.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Published in:
2017
By:
- Zollo, Massimo;
- Ahmed, Mustafa;
- Ferrucci, Veronica;
- Salpietro, Vincenzo;
- Asadzadeh, Fatemeh;
- Carotenuto, Marianeve;
- Maroofian, Reza;
- Al-Amri, Ahmed;
- Singh, Royana;
- Scognamiglio, Iolanda;
- Mojarrad, Majid;
- Musella, Luca;
- Duilio, Angela;
- Di Somma, Angela;
- Karaca, Ender;
- Rajab, Anna;
- Al-Khayat, Aisha;
- Mohapatra, Tribhuvan Mohan;
- Eslahi, Atieh;
- Ashrafzadeh, Farah
Publication type:
journal article
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.61590
By:
- Courtland, Jamie L.;
- Bradshaw, Tyler W. A.;
- Waitt, Greg;
- Soderblom, Erik J.;
- Ho, Tricia;
- Rajab, Anna;
- Vancini, Ricardo;
- Il Hwan Kim;
- Soderling, Scott H.
Publication type:
Article
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 435, doi. 10.1002/ajmg.a.37422
By:
- Al‐Maawali, Almundher;
- Barry, Brenda J.;
- Rajab, Anna;
- El‐Quessny, Malak;
- Seman, Ann;
- Coury, Stephanie Newton;
- Barkovich, A. James;
- Yang, Edward;
- Walsh, Christopher A.;
- Mochida, Ganeshwaran H.;
- Stoler, Joan M.
Publication type:
Article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252
By:
- Hennies, Hans Christian;
- Kornak, Uwe;
- Haikuo Zhang;
- Egerer, Johannes;
- Xin Zhang;
- Seifert, Wenke;
- Kühnisch, Jirko;
- Budde, Birgit;
- Nätebus, Marc;
- Brancati, Francesco;
- Wilcox, William R.;
- Müller, Dietmar;
- Kaplan, Paige B.;
- Rajab, Anna;
- Zampino, Giuseppe;
- Fodale, Valentina;
- Dallapiccola, Bruno;
- Newman, William;
- Metcalfe, Kay;
- Clayton-Smith, Jill
Publication type:
Article
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
Published in:
Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
By:
- Kornak, Uwe;
- Reynders, Ellen;
- Dimopoulou, Aikaterini;
- van Reeuwijk, Jeroen;
- Fischer, Bjoern;
- Rajab, Anna;
- Budde, Birgit;
- Nürnberg, Peter;
- Foulquier, Francois;
- Lefeber, Dirk;
- Urban, Zsolt;
- Gruenewald, Stephanie;
- Annaert, Wim;
- Brunner, Han G.;
- van Bokhoven, Hans;
- Wevers, Ron;
- Morava, Eva;
- Matthijs, Gert;
- Van Maldergem, Lionel;
- Mundlos, Stefan
Publication type:
Article
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Published in:
Nature Genetics, 2000, v. 25, n. 4, p. 419, doi. 10.1038/78107
By:
- Afzal, Ali R.;
- Rajab, Anna;
- Fenske, Christiane D.;
- Oldridge, Michael;
- Elanko, Navaratnam;
- Ternes-Pereira, Eliana;
- Tüysüz, Beyhan;
- Murday, Victoria A.;
- Patton, Michael A.;
- Wilkie, Andrew O.M.;
- Jeffery, Steve
Publication type:
Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Published in:
Human Genetics, 2011, v. 129, n. 2, p. 141, doi. 10.1007/s00439-010-0907-3
By:
- Kuss, Andreas Walter;
- Garshasbi, Masoud;
- Kahrizi, Kimia;
- Tzschach, Andreas;
- Behjati, Farkhondeh;
- Darvish, Hossein;
- Abbasi-Moheb, Lia;
- Puettmann, Lucia;
- Zecha, Agnes;
- Weißmann, Robert;
- Hu, Hao;
- Mohseni, Marzieh;
- Abedini, Seyedeh;
- Rajab, Anna;
- Hertzberg, Christoph;
- Wieczorek, Dagmar;
- Ullmann, Reinhard;
- Ghasemi-Firouzabadi, Saghar;
- Banihashemi, Susan;
- Arzhangi, Sanaz
Publication type:
Article
High-throughput sequencing of microdissected chromosomal regions.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 457, doi. 10.1038/ejhg.2009.196
By:
- Weise, Anja;
- Timmermann, Bernd;
- Grabherr, Manfred;
- Werber, Martin;
- Heyn, Patricia;
- Kosyakova, Nadezda;
- Liehr, Thomas;
- Neitzel, Heidemarie;
- Konrat, Kateryna;
- Bommer, Christiane;
- Dietrich, Carola;
- Rajab, Anna;
- Reinhardt, Richard;
- Mundlos, Stefan;
- Lindner, Tom H.;
- Hoffmann, Katrin
Publication type:
Article
Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 2, p. 173, doi. 10.1038/sj.ejhg.5201736
By:
- White, Dominic R. A.;
- Ganesh, Anuradha;
- Nishimura, Darryl;
- Rattenberry, Eleanor;
- Ahmed, Shakeel;
- Smith, Ursula M.;
- Pasha, Shanaz;
- Raeburn, Sandy;
- Trembath, Richard C.;
- Rajab, Anna;
- Macdonald, Fiona;
- Banin, Eyal;
- Stone, Edwin M.;
- Johnson, Colin A.;
- Sheffield, Val C.;
- Maher, Eamonn R.
Publication type:
Article
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Published in:
PLoS ONE, 2021, v. 16, n. 1, p. 1, doi. 10.1371/journal.pone.0244567
By:
- Vatsyayan, Aastha;
- Sharma, Parul;
- Gupta, Shrey;
- Sandhu, Sumiti;
- Venu, Seetha Lakshmi;
- Sharma, Vandana;
- Badaoui, Bouabid;
- Azedine, Kaidi;
- Youssef, Serti;
- Rajab, Anna;
- Fayez, Alaaeldin;
- Madinur, Seema;
- Ranawat, Anop;
- Pandhare, Kavita;
- Ramachandran, Srinivasan;
- Sivasubbu, Sridhar;
- Scaria, Vinod
Publication type:
Article
Developmental and degenerative features in a complicated spastic paraplegia.
Published in:
Annals of Neurology, 2010, v. 67, n. 4, p. 516, doi. 10.1002/ana.21923
By:
- Manzini, M. Chiara;
- Rajab, Anna;
- Maynard, Thomas M.;
- Mochida, Ganeshwaran H.;
- Tan, Wen-Hann;
- Nasir, Ramzi;
- Hill, R. Sean;
- Gleason, Danielle;
- Al Saffar, Muna;
- Partlow, Jennifer N.;
- Barry, Brenda J.;
- Vernon, Mike;
- LaMantia, Anthony-Samuel;
- Walsh, Christopher A.
Publication type:
Article
Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman.
Published in:
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2009, v. 18, n. 3, p. 424, doi. 10.1016/S1472-6483(10)60104-6
By:
- Goud, Tadakal Mallana;
- Harassi, Salma Mohammed Al;
- Salmani, Kamla Khalfan Al;
- Busaidy, Suleiman Mohammed Al;
- Rajab, Anna
Publication type:
Article
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 13, p. 2585, doi. 10.1093/hmg/ddr158
By:
- Ropers, Fabienne;
- Derivery, Emmanuel;
- Hu, Hao;
- Garshasbi, Masoud;
- Karbasiyan, Mohsen;
- Herold, Martin;
- Nürnberg, Gudrun;
- Ullmann, Reinhard;
- Gautreau, Alexis;
- Sperling, Karl;
- Varon, Raymonda;
- Rajab, Anna
Publication type:
Article
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
Published in:
2002
By:
- Heathcote, Kirsten;
- Rajab, Anna;
- Magré, Jocelyne;
- Syrris, Petros;
- Besti, Mehran;
- Patton, Michael;
- Délépine, Marc;
- Lathrop, Mark;
- Capeau, Jacqueline;
- Jeffery, Steve
Publication type:
journal article
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations.
Published in:
PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000874
By:
- Rajab, Anna;
- Straub, Volker;
- McCann, Liza J.;
- Seelow, Dominik;
- Varon, Raymonda;
- Barresi, Rita;
- Schulze, Anne;
- Lucke, Barbara;
- Lü tzkendorf, Susanne;
- Karbasiyan, Mohsen;
- Bachmann, Sebastian;
- Spuler, Simone;
- Schuelke, Markus
Publication type:
Article
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 267, doi. 10.1002/humu.23694
By:
- Rehman, Atteeq U.;
- Najafi, Maryam;
- Kambouris, Marios;
- Al‐Gazali, Lihadh;
- Makrythanasis, Periklis;
- Rad, Abolfazl;
- Maroofian, Reza;
- Rajab, Anna;
- Stark, Zornitza;
- Hunter, Jill V.;
- Bakey, Zeineb;
- Tokita, Mari J.;
- He, Weimin;
- Vetrini, Francesco;
- Petersen, Andrea;
- Santoni, Federico A.;
- Hamamy, Hanan;
- Wu, Kaman;
- Al‐Jasmi, Fatma;
- Helmstädter, Martin
Publication type:
Article
Cover Image, Volume 40, Issue 3.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. i, doi. 10.1002/humu.22892
By:
- Rehman, Atteeq U.;
- Najafi, Maryam;
- Kambouris, Marios;
- Al‐Gazali, Lihadh;
- Makrythanasis, Periklis;
- Rad, Abolfazl;
- Maroofian, Reza;
- Rajab, Anna;
- Stark, Zornitza;
- Hunter, Jill V.;
- Bakey, Zeineb;
- Tokita, Mari J.;
- He, Weimin;
- Vetrini, Francesco;
- Petersen, Andrea;
- Santoni, Federico A.;
- Hamamy, Hanan;
- Wu, Kaman;
- Al‐Jasmi, Fatma;
- Helmstädter, Martin
Publication type:
Article
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
Published in:
Human Mutation, 2010, v. 31, n. 1, p. 20, doi. 10.1002/humu.21150
By:
- Huber, Celine;
- Fradin, Mélanie;
- Edouard, Thomas;
- Le Merrer, Martine;
- Alanay, Yasemin;
- Da Silva, Daniela Bezerra;
- David, Albert;
- Hamamy, Hanan;
- van Hest, Liselotte;
- Lund, Allan M.;
- Michaud, Jacques;
- Oley, Christine;
- Patel, Chirag;
- Rajab, Anna;
- Skidmore, David L.;
- Stewart, Helen;
- Tauber, Maité;
- Munnich, Arnold;
- Cormier-Daire, Valerie
Publication type:
Article
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 21, p. 4013, doi. 10.1093/hmg/ddp345
By:
- Schwarzer, Wibke;
- Witte, Florian;
- Rajab, Anna;
- Mundlos, Stefan;
- Stricker, Sigmar
Publication type:
Article
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 14, p. 2150, doi. 10.1093/hmg/ddn114
By:
- Rajab, Anna;
- Kelberman, Daniel;
- de Castro, Sandra C.P.;
- Biebermann, Heike;
- Shaikh, Hala;
- Pearce, Kerra;
- Hall, Catherine M.;
- Shaikh, Guftar;
- Gerrelli, Dianne;
- Grueters, Annette;
- Krude, Heiko;
- Dattani, Mehul T.
Publication type:
Article
Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome.
Published in:
1998
By:
- Soliman, Ashraf;
- Rajab, Anna;
- Zalabany, Mahmound;
- AlSalmi, Issa;
- Fattah, Mohammed;
- Soliman, A T;
- Rajab, A;
- el Zalabany, M;
- alSalmi, I;
- Fattah, M A
Publication type:
journal article

Found: 21