| 1 |
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. ( 29961235
)
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2018 |
| 2 |
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia. ( 30531648
)
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Ozel F...Alptekin K
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2018 |
| 3 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412
)
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2017 |
| 4 |
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990
)
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2017 |
| 5 |
Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28712007
)
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Bober MB...Jackson AP
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2017 |
| 6 |
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. ( 27169690
)
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Saito S....Adachi N.
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2016 |
| 7 |
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769
)
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Harley M.E....Jackson A.P.
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2016 |
| 8 |
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. ( 27611897
)
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Teo M....Steinberg G.K.
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2016 |
| 9 |
Microcephalic osteodysplastic primordial dwarfism type 1. ( 27312855
)
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2016 |
| 10 |
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. ( 27232581
)
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2016 |
| 11 |
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). ( 27591150
)
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2016 |
| 12 |
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. ( 26641461
)
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2016 |
| 13 |
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249
)
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2016 |
| 14 |
Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. ( 26419500
)
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Abdel-Salam GM...Abdel-Hamid MS
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2016 |
| 15 |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. ( 26608784
)
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Shamseldin H....Alkuraya F.S.
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2015 |
| 16 |
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. ( 25728776
)
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Murray J.E....Bicknell L.S.
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2015 |
| 17 |
A novel cause for primordial dwarfism revealed: defective tRNA modification. ( 26429597
)
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Filonava L....Ribas de Pouplana L.
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2015 |
| 18 |
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. ( 26059803
)
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Ruiz-Botero F....Pachajoa H.
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2015 |
| 19 |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. ( 26637980
)
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Burrage L.C....Yang Y.
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2015 |
| 20 |
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. ( 26231886
)
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Li F.F....Liu S.L.
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2015 |
| 21 |
Primordial dwarfism: overview of clinical and genetic aspects. ( 26323792
)
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Khetarpal P....Munshi A.
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2015 |
| 22 |
Primordial dwarfism: an update. ( 25490023
)
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2015 |
| 23 |
Two novel POC1A mutations in the Primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. ( 26374189
)
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2015 |
| 24 |
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. ( 25735804
)
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2015 |
| 25 |
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. ( 26416026
)
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2015 |
| 26 |
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. ( 26162852
)
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2015 |
| 27 |
Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient. ( 28955524
)
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Terlemez A...Celebi H
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2015 |
| 28 |
Genomic analysis of primordial dwarfism reveals novel disease genes. ( 24389050
)
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Shaheen R....Alkuraya F.S.
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2014 |
| 29 |
Hip pathology in Majewski osteodysplastic primordial dwarfism type II. ( 24705347
)
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Karatas A.F....Mackenzie W.G.
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2014 |
| 30 |
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. ( 24741545
)
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Bhutia E....Maria A.
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2014 |
| 31 |
Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. ( 25320347
)
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2014 |
| 32 |
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. ( 24748105
)
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2014 |
| 33 |
Primordial dwarfism gene maintains Lin28 expression to safeguard embryonic stem cells from premature differentiation. ( 24768001
)
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2014 |
| 34 |
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. ( 24928221
)
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2014 |
| 35 |
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. ( 25105364
)
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2014 |
| 36 |
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050
)
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2014 |
| 37 |
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. ( 24106199
)
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Unal S...Gumruk F
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2014 |
| 38 |
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency. ( 23612698
)
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Faienza M.F....Cavallo L.
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2013 |
| 39 |
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. ( 22773355
)
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Rigter L.S....Wendt K.W.
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2013 |
| 40 |
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. ( 23498563
)
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Perry L.D....Ganesan V.
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2013 |
| 41 |
"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. ( 23337351
)
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2013 |
| 42 |
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. ( 23794361
)
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2013 |
| 43 |
Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami". ( 24551984
)
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2013 |
| 44 |
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities. ( 24027040
)
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2013 |
| 45 |
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. ( 22581640
)
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Abdel-Salam G.M....Amr K.
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2012 |
| 46 |
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). ( 22527565
)
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KA+lA+As E....Alanay Y.
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2012 |
| 47 |
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. ( 21815888
)
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Nagy R....Westman J.A.
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2012 |
| 48 |
Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome. ( 22786707
)
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2012 |
| 49 |
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. ( 22821869
)
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2012 |
| 50 |
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. ( 22933543
)
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2012 |
