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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Published in:
2017
By:
- Barel, Ortal;
- Malicdan, May Christine V.;
- Ben-Zeev, Bruria;
- Kandel, Judith;
- Pri-Chen, Hadass;
- Stephen, Joshi;
- Castro, Inês G.;
- Metz, Jeremy;
- Atawa, Osama;
- Moshkovitz, Sharon;
- Ganelin, Eti;
- Barshack, Iris;
- Polak-Charcon, Sylvie;
- Nass, Dvora;
- Marek-Yagel, Dina;
- Amariglio, Ninette;
- Shalva, Nechama;
- Vilboux, Thierry;
- Ferreira, Carlos;
- Pode-Shakked, Ben
Publication type:
journal article
Measurements of aerosol optical depths and black carbon over Bay of Bengal during post-monsoon season.
Published in:
Geophysical Research Letters, 2004, v. 31, n. 16, p. n/a, doi. 10.1029/2004GL020681
By:
- Sumanth, E.;
- Mallikarjuna, K.;
- Stephen, Joshi;
- Moole, Mahesh;
- Vinoj, V.;
- Satheesh, S. K.;
- Moorthy, K. Krishna
Publication type:
Article
Diagnosis of Chediak Higashi disease in a 67‐year old woman.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886
By:
- Yarnell, David S.;
- Roney, Joseph C.;
- Teixeira, Cláudia;
- Freitas, Maria I.;
- Cipriano, Ana;
- Leuschner, Pedro;
- Krzewski, Konrad;
- Stephen, Joshi;
- Dorward, Heidi;
- Gahl, William A.;
- Gochuico, Bernadette R.;
- Toro, Camilo;
- Malicdan, May C.;
- Introne, Wendy J.
Publication type:
Article
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2930, doi. 10.1002/ajmg.a.40658
By:
- Stephen, Joshi;
- Nampoothiri, Sheela;
- Kuppa, Srikar;
- Yesodharan, Dhanya;
- Radhakrishnan, Natasha;
- Gahl, William A.;
- Malicdan, May Christine V.
Publication type:
Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
By:
- Vilboux, Thierry;
- Malicdan, May Christine V.;
- Roney, Joseph C.;
- Cullinane, Andrew R.;
- Stephen, Joshi;
- Yildirimli, Deniz;
- Bryant, Joy;
- Fischer, Roxanne;
- Vemulapalli, Meghana;
- Mullikin, James C.;
- Steinbach, Peter J.;
- Gahl, William A.;
- Gunay‐Aygun, Meral
Publication type:
Article
Unusual skin manifestations in a patient with menkes disease.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3039, doi. 10.1002/ajmg.a.37696
By:
- Gupta, Divya;
- Rao, Raghavendra;
- Girisha, Katta M.;
- Stephen, Joshi;
- Phadke, Shubha R.
Publication type:
Article
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1482, doi. 10.1002/ajmg.a.36481
By:
- Stephen, Joshi;
- Shukla, Anju;
- Dalal, Ashwin;
- Girisha, Katta Mohan;
- Shah, Hitesh;
- Gupta, Neerja;
- Kabra, Madhulika;
- Dabadghao, Preeti;
- Phadke, Shubha R.
Publication type:
Article
Cortical atrophy and hypofibrinogenemia due to <italic>FGG</italic> and <italic>TBCD</italic> mutations in a single family: a case report.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0597-6
By:
- Stephen, Joshi;
- Nampoothiri, Sheela;
- Vinayan, K. P.;
- Yesodharan, Dhanya;
- Remesh, Preetha;
- Gahl, William A.;
- Malicdan, May Christine V.
Publication type:
Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Published in:
2019
By:
- Power, Bradley;
- Ferreira, Carlos R.;
- Chen, Dong;
- Zein, Wadih M.;
- O'Brien, Kevin J.;
- Introne, Wendy J.;
- Stephen, Joshi;
- Gahl, William A.;
- Huizing, Marjan;
- Malicdan, May Christine V.;
- Adams, David R.;
- Gochuico, Bernadette R.
Publication type:
journal article
Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Published in:
Human Genetics, 2018, v. 137, n. 4, p. 293, doi. 10.1007/s00439-018-1882-3
By:
- Stephen, Joshi;
- Nampoothiri, Sheela;
- Banerjee, Aditi;
- Tolman, Nathanial J.;
- Penninger, Josef Martin;
- Elling, Ullrich;
- Agu, Chukwuma A.;
- Burke, John D.;
- Devadathan, Kalpana;
- Kannan, Rajesh;
- Huang, Yan;
- Steinbach, Peter J.;
- Martinis, Susan A.;
- Gahl, William A.;
- Malicdan, May Christine V.
Publication type:
Article
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 399, doi. 10.1007/s00439-017-1765-z
By:
- Vilboux, Thierry;
- Gahl, William;
- Malicdan, May;
- Gunay-Aygun, Meral;
- Stephen, Joshi;
- Kuptanon, Chulaluck;
- Sinclair, Courtney;
- Yildirimli, Deniz;
- Maynard, Dawn;
- Bryant, Joy;
- Fischer, Roxanne;
- Huizing, Marjan;
- Mian, Luhe;
- Vemulapalli, Meghana;
- Mullikin, James
Publication type:
Article
Worsening of callus hyperplasia after bisphosphonate treatment in type V osteogenesis imperfecta.
Published in:
Indian Pediatrics, 2016, v. 53, n. 3, p. 250, doi. 10.1007/s13312-016-0830-3
By:
- Ranganath, Prajnya;
- Stephen, Joshi;
- Iyengar, Raju;
- Phadke, Shubha
Publication type:
Article
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372
By:
- Kambouris, Marios;
- Thevenon, Julien;
- Soldatos, Ariane;
- Cox, Allison;
- Stephen, Joshi;
- Ben‐Omran, Tawfeg;
- Al‐Sarraj, Yasser;
- Boulos, Hala;
- Bone, William;
- Mullikin, James C.;
- Masurel‐Paulet, Alice;
- St‐Onge, Judith;
- Dufford, Yannis;
- Chantegret, Corrine;
- Thauvin‐Robinet, Christel;
- Al‐Alami, Jamil;
- Faivre, Laurence;
- Riviere, Jean Baptiste;
- Gahl, William A.;
- Bassuk, Alexander G.
Publication type:
Article
Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Published in:
Clinical Genetics, 2021, v. 99, n. 4, p. 594, doi. 10.1111/cge.13928
By:
- Somashekar, Puneeth H.;
- Kaur, Parneet;
- Stephen, Joshi;
- Guleria, Vishal Singh;
- Kadavigere, Rajagopal;
- Girisha, Katta Mohan;
- Bielas, Stephanie;
- Upadhyai, Priyanka;
- Shukla, Anju
Publication type:
Article
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300
By:
- Garland, Jennifer;
- Stephen, Joshi;
- Class, Bradley;
- Gruber, Angela;
- Ciccone, Carla;
- Poliak, Aaron;
- Hayes, Christina P.;
- Singhal, Vandana;
- Slota, Christina;
- Perreault, John;
- Gavrilova, Ralitza;
- Shrader, Joseph A.;
- Chittiboina, Prashant;
- Joe, Galen;
- Heiss, John;
- Gahl, William A.;
- Huizing, Marjan;
- Carrillo, Nuria;
- Malicdan, May Christine V.
Publication type:
Article
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Published in:
Human Mutation, 2016, v. 37, n. 11, p. 1144, doi. 10.1002/humu.23054
By:
- Maglic, Dino;
- Stephen, Joshi;
- Malicdan, May Christine V.;
- Guo, Jennifer;
- Fischer, Roxanne;
- Konzman, Daniel;
- Mullikin, James C.;
- Gahl, William A.;
- Vilboux, Thierry;
- Gunay‐Aygun, Meral
Publication type:
Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Published in:
Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
By:
- Kuptanon, Chulaluk;
- Morimoto, Marie;
- Nicoli, Elena-Raluca;
- Stephen, Joshi;
- Yarnell, David S.;
- Dorward, Heidi;
- Owen, William;
- Parikh, Suhag;
- Ozbek, Namik Yasar;
- Malbora, Baris;
- Ciccone, Carla;
- Gunay-Aygun, Meral;
- Gahl, William A.;
- Introne, Wendy J.;
- Malicdan, May Christine V.
Publication type:
Article
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.
Published in:
2016
By:
- Narayanan, Dhanya;
- Shukla, Anju;
- Siddesh, Anju;
- Stephen, Joshi;
- Srivastava, Priyanka;
- Mandal, Kausik;
- Phadke, Shubha;
- Narayanan, Dhanya Lakshmi;
- Siddesh, Anju Rani;
- Phadke, Shubha R
Publication type:
journal article
Consanguinity as an Adjunct Diagnostic Tool.
Published in:
2016
By:
- Srivastava, Priyanka;
- Saxena, Deepti;
- Joshi, Stephen;
- Phadke, Shubha;
- Phadke, Shubha R
Publication type:
journal article
Fibrodysplasia Ossificans Progressiva: Three Indian Patients with Mutation in the ACVR1 Gene.
Published in:
Indian Journal of Pediatrics, 2014, v. 81, n. 6, p. 617, doi. 10.1007/s12098-013-1117-5
By:
- Shukla, Anju;
- Taywade, Onjal;
- Stephen, Joshi;
- Gupta, Divya;
- Phadke, Shubha
Publication type:
Article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
By:
- Stephen, Joshi;
- Yokoyama, Tadafumi;
- Tolman, Nathanial J.;
- O’Brien, Kevin J.;
- Nicoli, Elena-Raluca;
- Brooks, Brian P.;
- Huryn, Laryssa;
- Titus, Steven A.;
- Adams, David R.;
- Chen, Dong;
- Gahl, William A.;
- Gochuico, Bernadette R.;
- Malicdan, May Christine V.
Publication type:
Article

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