| 1 |
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family. ( 29926385
)
|
Khan M.A....Naeem M.
|
2018 |
| 2 |
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516
)
|
Moscatelli I....Richter J.
|
2017 |
| 3 |
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. ( 28604959
)
|
Wang M....Gao S.
|
2017 |
| 4 |
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. ( 27541021
)
|
Thudium C.S....Henriksen K.
|
2016 |
| 5 |
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. ( 26485304
)
|
Natsheh J....Stepensky P.
|
2015 |
| 6 |
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. ( 26365571
)
|
Lin W.D....Tsai F.J.
|
2015 |
| 7 |
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. ( 26477479
)
|
Zeng B....Wang Y.
|
2015 |
| 8 |
Diagnosis: Infantile Malign Osteopetrosis. ( 25330538
)
|
Taner S....TunAs B.
|
2014 |
| 9 |
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. ( 25504019
)
|
Kuroyanagi Y....Kaneko K.
|
2014 |
| 10 |
Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis. ( 24101165
)
|
Siddaiahgari S.R....Lingappa L.
|
2013 |
| 11 |
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. ( 23907031
)
|
Moscatelli I....Richter J.
|
2013 |
| 12 |
Infantile malignant osteopetrosis. ( 23721911
)
|
Nour M....Ward L.M.
|
2013 |
| 13 |
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. ( 23329773
)
|
Engiz O....Bilge Y.D.
|
2012 |
| 14 |
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. ( 22828766
)
|
Sekerci A.E....Aydinbelge M.
|
2012 |
| 15 |
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. ( 21042819
)
|
Yuan P....Wang Y.
|
2011 |
| 16 |
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. ( 20424301
)
|
Phadke S.R....Kornak U.
|
2010 |
| 17 |
Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. ( 19756570
)
|
Biyyam D.R....Done S.
|
2010 |
| 18 |
A single-center experience in 20 patients with infantile malignant osteopetrosis. ( 19507210
)
|
Mazzolari E....Notarangelo L.D.
|
2009 |
| 19 |
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. ( 18946580
)
|
Abbaszadegan M.R....Velayati A.
|
2008 |
| 20 |
Infantile autosomal-recessive malignant osteopetrosis. ( 17592489
)
|
Herman T.E....Siegel M.J.
|
2007 |
| 21 |
Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. ( 15116126
)
|
Shin Y.J.
|
2004 |
| 22 |
Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. ( 15284856
)
|
Blin-Wakkach C....Carle G.F.
|
2004 |
| 23 |
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. ( 12687885
)
|
Bruder E....Vezzoni P.
|
2003 |
| 24 |
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. ( 12552563
)
|
Scimeca J.-C....Carle G.F.
|
2003 |
| 25 |
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. ( 11856654
)
|
Michigami T....Ozono K.
|
2002 |
| 26 |
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. ( 10942435
)
|
Kornak U....Kubisch C.
|
2000 |
| 27 |
Distal phalangeal resorption in an adult with infantile malignant osteopetrosis: a case report. ( 9523972
)
|
McCulloch P.C....Athanasian E.A.
|
1998 |
| 28 |
Bone marrow transplantation for infantile malignant osteopetrosis. ( 7583393
)
|
Solh H....Sakati N.
|
1995 |
| 29 |
Infantile malignant osteopetrosis presenting as bilateral choanal atresia: Report of two cases. ( 17588000
)
|
Al-Mofada S.M....Familusi J.B.
|
1993 |
