Blank C - Search Results

1

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.

Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W. Stumm M, et al. Among authors: blank c. Prenat Diagn. 2014 Feb;34(2):185-91. doi: 10.1002/pd.4278. Epub 2013 Dec 12. Prenat Diagn. 2014. PMID: 24222400

2

Carrier detection and prenatal diagnosis in Norrie disease.

Curtis D, Blank CE, Parsons MA, Hughes HN. Curtis D, et al. Among authors: blank ce. Prenat Diagn. 1989 Oct;9(10):735-40. doi: 10.1002/pd.1970091009. Prenat Diagn. 1989. PMID: 2574445

3

The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age.

Parsons MA, Curtis D, Blank CE, Hughes HN, McCartney AC. Parsons MA, et al. Among authors: blank ce. Graefes Arch Clin Exp Ophthalmol. 1992;230(3):248-51. doi: 10.1007/BF00176299. Graefes Arch Clin Exp Ophthalmol. 1992. PMID: 1350768

4

Recombination between DXS7, DXS84 and a rare form of X-linked retinitis pigmentosa (McK-30320).

Curtis D, Blank CE. Curtis D, et al. Among authors: blank ce. Hum Genet. 1989 Jan;81(2):200-2. doi: 10.1007/BF00293906. Hum Genet. 1989. PMID: 2912892 No abstract available.

5

An evaluation of reinforcement of genetic counselling on the consultand.

Curtis D, Johnson M, Blank CE. Curtis D, et al. Among authors: blank ce. Clin Genet. 1988 Apr;33(4):270-6. doi: 10.1111/j.1399-0004.1988.tb03448.x. Clin Genet. 1988. PMID: 2834123

6

Family with neuromuscular disorder where mode of inheritance was resolved by RFLP analysis.

Blank CE, Curtis DJ. Blank CE, et al. Lancet. 1987 Jan 24;1(8526):228. doi: 10.1016/s0140-6736(87)90051-1. Lancet. 1987. PMID: 2880061 No abstract available.

7

Grebe chondrodysplasia and brachydactyly in a family.

Kumar D, Curtis D, Blank CE. Kumar D, et al. Among authors: blank ce. Clin Genet. 1984 Jan;25(1):68-72. doi: 10.1111/j.1399-0004.1984.tb00465.x. Clin Genet. 1984. PMID: 6705242

8

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M. Kratz CP, et al. Among authors: blank c. Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc.2015.75. Epub 2015 Mar 5. Br J Cancer. 2015. PMID: 25742478 Free PMC article.

9

A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently.

Kumar D, Clark JW, Blank CE, Patton MA. Kumar D, et al. Among authors: blank ce. Clin Genet. 1986 Jun;29(6):530-7. doi: 10.1111/j.1399-0004.1986.tb00555.x. Clin Genet. 1986. PMID: 3742859

10

Cornelia de Lange syndrome in several members of the same family.

Kumar D, Blank CE, Griffiths BL. Kumar D, et al. Among authors: blank ce. J Med Genet. 1985 Aug;22(4):296-300. doi: 10.1136/jmg.22.4.296. J Med Genet. 1985. PMID: 4045958 Free PMC article.

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