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Literature DB >> 7046443

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.

F Majewski, T Goecke.

Abstract

Entities: Disease

Mesh：

Year: 1982 PMID： 7046443 DOI： 10.1002/ajmg.1320120103

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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46 in total

1. Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Authors: Heidemarie Neitzel; Luitgard M Neumann; Detlev Schindler; Andreas Wirges; Holger Tönnies; Marc Trimborn; Alice Krebsova; Reyk Richter; Karl Sperling
Journal: Am J Hum Genet Date: 2002-02-20 Impact factor: 11.025

2. Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

Authors: S Spranger; G Tariverdian; F K Albert; D Sontheimer; J Zöller; M Weber; J Tröger
Journal: Eur J Pediatr Date: 1996-09 Impact factor: 3.183

3. Seckel syndrome: an overdiagnosed syndrome.

Authors: E Thompson; M Pembrey
Journal: J Med Genet Date: 1985-06 Impact factor: 6.318

4. Acute myeloid leukaemia in a patient with Seckel syndrome.

Authors: A Hayani; C R Suarez; Z Molnar; M LeBeau; J Godwin
Journal: J Med Genet Date: 1994-02 Impact factor: 6.318

5. Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.

Authors: C G Woods; M Leversha; J G Rogers
Journal: J Med Genet Date: 1995-04 Impact factor: 6.318

6. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Authors: Ranad Shaheen; Eissa Faqeih; Hanan E Shamseldin; Ramil R Noche; Asma Sunker; Muneera J Alshammari; Tarfa Al-Sheddi; Nouran Adly; Mohammed S Al-Dosari; Sean G Megason; Muneera Al-Husain; Futwan Al-Mohanna; Fowzan S Alkuraya
Journal: Am J Hum Genet Date: 2012-07-26 Impact factor: 11.025

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.

1. Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

2. Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

3. Seckel syndrome: an overdiagnosed syndrome.

4. Acute myeloid leukaemia in a patient with Seckel syndrome.

5. Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.

6. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

7. DNA double-strand break signaling and human disorders.

8. Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation.

Review 9. Primordial dwarfism: overview of clinical and genetic aspects.

Review 10. Pericentrin in cellular function and disease.