| scholarly article | Q13442814 |
| P50 | author | Peter Nürnberg | Q2077335 |
| Christian T Thiel | Q54993340 | ||
| Anita Rauch | Q21253643 | ||
| Gudrun Nürnberg | Q28320150 | ||
| Bernd Wollnik | Q28324741 | ||
| Hulya Kayserili | Q30111689 | ||
| Gökhan Yigit | Q30500456 | ||
| Almuth Caliebe | Q40932590 | ||
| P2093 | author name string | Yun Li | |
| Umut Altunoglu | |||
| Elisabeth Rosser | |||
| Diana Zahnleiter | |||
| Esther Pohl | |||
| Karen E Brown | |||
| Nina Bögershausen | |||
| Zehra Oya Uyguner | |||
| P2860 | cites work | Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. | Q52087557 |
| A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss | Q59615694 | ||
| GRR: graphical representation of relationship errors | Q74428451 | ||
| HaploPainter: a tool for drawing pedigrees with complex haplotypes | Q80585999 | ||
| Subdiffraction imaging of centrosomes reveals higher-order organizational features of pericentriolar material | Q85242680 | ||
| Cloning of three novel neuronal Cdk5 activator binding proteins | Q22253344 | ||
| CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex | Q24298634 | ||
| Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion | Q24301594 | ||
| Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex | Q24312180 | ||
| CEP152 is a genome maintenance protein disrupted in Seckel syndrome | Q24312725 | ||
| Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics | Q24339197 | ||
| PedCheck: a program for identification of genotype incompatibilities in linkage analysis | Q24539016 | ||
| Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells | Q24550947 | ||
| A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size | Q24570115 | ||
| CtIP Mutations Cause Seckel and Jawad Syndromes | Q27335946 | ||
| Merlin--rapid analysis of dense genetic maps using sparse gene flow trees | Q27860829 | ||
| Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | Q28139172 | ||
| A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome | Q28183834 | ||
| Novel CENPJ mutation causes Seckel syndrome | Q28284221 | ||
| Cytoskeletal genes regulating brain size | Q28285696 | ||
| Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome | Q28485037 | ||
| CDK5RAP2 regulates centriole engagement and cohesion in mice | Q28505755 | ||
| Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors | Q28594217 | ||
| Cerebral organoids model human brain development and microcephaly | Q28973619 | ||
| Allegro, a new computer program for multipoint linkage analysis | Q29618620 | ||
| Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation | Q30455142 | ||
| ALOHOMORA: a tool for linkage analysis using 10K SNP array data | Q30980243 | ||
| Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly | Q33296331 | ||
| CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response | Q33788443 | ||
| Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism | Q34281379 | ||
| A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. | Q34520281 | ||
| A primary microcephaly protein complex forms a ring around parental centrioles. | Q35822248 | ||
| Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein | Q36361399 | ||
| Neurogenesis and asymmetric cell division | Q37177866 | ||
| Genomic analysis of primordial dwarfism reveals novel disease genes | Q37550236 | ||
| What's the hype about CDK5RAP2? | Q37843832 | ||
| The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing | Q38111028 | ||
| Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Q38632163 | ||
| Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome | Q40333436 | ||
| Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. | Q40501657 | ||
| CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly | Q41933551 | ||
| Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. | Q41937661 | ||
| Centrioles regulate centrosome size by controlling the rate of Cnn incorporation into the PCM. | Q47070388 | ||
| P433 | issue | 5 | |
| P921 | main subject | Seckel syndrome | Q572169 |
| P304 | page(s) | 467-480 | |
| P577 | publication date | 2015-05-24 | |
| P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
| P1476 | title | Mutations in CDK5RAP2 cause Seckel syndrome | |
| P478 | volume | 3 |
| Q96304236 | A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review |
| Q47261462 | A new association between CDK5RAP2 microcephaly and congenital cataracts |
| Q28080728 | A new horizon of moyamoya disease and associated health risks explored through RNF213 |
| Q37319337 | Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities |
| Q41918656 | Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome |
| Q37710011 | CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. |
| Q92888280 | Cep44 functions in centrosome cohesion by stabilizing rootletin |
| Q39256785 | Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders. |
| Q48023962 | Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay |
| Q87852390 | Looking back and looking forward |
| Q92763208 | MTOC Organization and Competition During Neuron Differentiation |
| Q39298424 | Regulation of cytokinesis during corticogenesis: focus on the midbody |
| Q49571261 | Same but different: pleiotropy in centrosome-related microcephaly |
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