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Items: 20

1.

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Khan S, Ali RH, Abbasi S, Nawaz M, Muhammad N, Ahmad W.

BMC Med Genet. 2012 Jun 12;13:44.

2.

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Geister KA, Brinkmeier ML, Hsieh M, Faust SM, Karolyi IJ, Perosky JE, Kozloff KM, Conti M, Camper SA.

Hum Mol Genet. 2013 Jan 15;22(2):345-57. doi: 10.1093/hmg/dds432. Epub 2012 Oct 12.

3.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML.

Am J Hum Genet. 2004 Jul;75(1):27-34. Epub 2004 May 14.

4.
5.

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.

Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR.

Hum Mol Genet. 2009 Jan 15;18(2):267-77. doi: 10.1093/hmg/ddn354. Epub 2008 Oct 22.

6.

Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy.

Huang PC, Chang JH, Shen ML, Chen KB.

J Anesth. 2012 Aug;26(4):640-1. doi: 10.1007/s00540-012-1389-3. Epub 2012 Apr 24. No abstract available.

PMID:
22526432
7.

Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.

Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS.

Am J Med Genet A. 2003 Aug 15;121A(1):9-14.

PMID:
12900894
8.

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML.

Am J Hum Genet. 1998 Jul;63(1):155-62.

9.

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V.

J Med Genet. 2000 Jan;37(1):52-4.

10.

Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome.

Al Kaissi A, Chehida FB, Ben Ghachem M, Klaushofer K, Grill F.

Clin Dysmorphol. 2009 Apr;18(2):122-6.

PMID:
19449465
11.

Acromesomelic dysplasia of the Maroteaux type.

Banapurmath CR, Patil M, Guruprasad G, Kesaree N.

Indian J Pediatr. 1990 Nov-Dec;57(6):803-5. No abstract available.

PMID:
2131316
12.

[Acromesomelic dysplasia].

Nakamura M.

Ryoikibetsu Shokogun Shirizu. 2001;(33):138-40. Review. Japanese. No abstract available.

PMID:
11462370
14.

Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia.

Güven A, Dagcinar A, Ceyhan M.

J Pediatr Endocrinol Metab. 2008 Oct;21(10):941-2. No abstract available.

PMID:
19209615
15.

Acromesomelic dysplasia with bronchiectasis.

Farnaz S, Gothi D, Joshi JM.

Indian J Chest Dis Allied Sci. 2005 Apr-Jun;47(2):131-4.

PMID:
15832960
16.

Acromesomelic dysplasia.

Langer LO, Garrett RT.

Radiology. 1980 Nov;137(2):349-55.

PMID:
7433666
17.

Acromesomelic dysplasia associated with mild lumbar spine stenosis.

Haliloglu M, Ozen H, Kocak N, Unsal M.

Eur Radiol. 1999;9(1):103-4.

PMID:
9933391
18.

Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.

Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P.

Clin Genet. 2000 Apr;57(4):278-83.

PMID:
10845568
19.

Ocular findings in acromesomelic dysplasia.

Clarke WN, Munro S, Brownstein S, Agapitos P, Hughes-Benzie R.

Am J Ophthalmol. 1994 Dec 15;118(6):797-804.

PMID:
7977608
20.

A boy with acromesomelic dysplasia. Growth course and growth hormone release.

Raes M, Vanderschueren-Lodeweyckx M, Haspeslagh M, Vles JS, Fryns JP, Eeckels R.

Helv Paediatr Acta. 1985 Dec;40(5):415-20.

PMID:
3910617

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