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Quoted phrase not found in phrase index: "Intellectual developmental disorder, X-linked 108"
Page 1
Adrenoleukodystrophy--a new mutation identified.
Vachalova I, Chandoga J, Petrovic R, Copikova-Cudrakova D, Sykora M, Traubner P. Vachalova I, et al. Bratisl Lek Listy. 2007;108(10-11):462-6. Bratisl Lek Listy. 2007. PMID: 18306728
INTRODUCTION: X-linked adrenoleukodystrophy from the group of peroxisomal disorders presents with an extensive spectrum of phenotypes. ...We present a phenotype description of a patient with this mutation. CONCLUSIONS: X-linked adrenoleukodystrophy is …
INTRODUCTION: X-linked adrenoleukodystrophy from the group of peroxisomal disorders presents with an extensive spectrum of phe …
Anthropometry in Martin-Bell syndrome.
Loesch DZ, Lafranchi M, Scott D. Loesch DZ, et al. Am J Med Genet. 1988 May-Jun;30(1-2):149-64. doi: 10.1002/ajmg.1320300113. Am J Med Genet. 1988. PMID: 3177440
Thirty anthropometric measurements were analyzed in 147 adults with Martin-Bell syndrome (MBS) (56 men and 91 women) and in a random sample of 108 normal women and 111 men. Results of the univariate comparison of the age, height, or weight-adjusted variables between MBS an …
Thirty anthropometric measurements were analyzed in 147 adults with Martin-Bell syndrome (MBS) (56 men and 91 women) and in a random sample …
Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.
Uzielli ML, Guarducci S, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli B, Vieri F, Scarnato P, Gori F, Sereni A. Uzielli ML, et al. Am J Med Genet. 1999 May 28;84(3):300-3. Am J Med Genet. 1999. PMID: 10331612
In 1995 we started screening two groups of subjects as a part of a Fragile X Research Program: 1) women previously diagnosed as fragile X carriers from the register of our center and 2) women with POF and without a family history of fragile X or other forms of mental re …
In 1995 we started screening two groups of subjects as a part of a Fragile X Research Program: 1) women previously diagnosed as fragile X ca …
The movement disorders of Coffin-Lowry syndrome.
Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM. Stephenson JB, et al. Brain Dev. 2005 Mar;27(2):108-13. doi: 10.1016/j.braindev.2003.11.010. Brain Dev. 2005. PMID: 15668049
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. ...
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutati …
Efficacy of Enzyme Replacement Therapy on the range of motion of the upper and lower extremities in 16 Polish patients with mucopolysaccharidosis type II: A long-term follow-up study.
Marucha J, Lipiński P, Tylki-Szymańska A. Marucha J, et al. Acta Biochim Pol. 2022 Feb 28;69(1):251-255. doi: 10.18388/abp.2020_6071. Acta Biochim Pol. 2022. PMID: 35226799 Free article.
A passive JROM was measured with a goniometer by one physiotherapist, while in group 1 it was assessed at baseline and after both short-term (52 weeks) and long-term (mean 230 weeks, range: 108-332 weeks) ERT. In group 2, it was assessed at baseline and after short-term ER …
A passive JROM was measured with a goniometer by one physiotherapist, while in group 1 it was assessed at baseline and after both short-term …
Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions.
Raspberry KA, Skinner D. Raspberry KA, et al. Soc Sci Med. 2011 Mar;72(6):992-8. doi: 10.1016/j.socscimed.2011.01.010. Epub 2011 Feb 3. Soc Sci Med. 2011. PMID: 21333433 Free PMC article.
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and female carriers have a 50% probability with each pregnancy of transmitting the FX gene. We present data from interviews conducted with 108 mothers across the U.S. who participated in …
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and female carriers have a 50% probability with each …
Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy.
Kühl JS, Kupper J, Baqué H, Ebell W, Gärtner J, Korenke C, Spors B, Steffen IG, Strauss G, Voigt S, Weschke B, Weddige A, Köhler W, Steinfeld R. Kühl JS, et al. JAMA Netw Open. 2018 Jul 6;1(3):e180769. doi: 10.1001/jamanetworkopen.2018.0769. JAMA Netw Open. 2018. PMID: 30646031 Free PMC article.
IMPORTANCE: Allogeneic hematopoietic stem cell transplantation is the standard intervention for childhood cerebral X-linked adrenoleukodystrophy. However, the pretransplant conditions, demyelination patterns, complications, and neurological outcomes of this therapy …
IMPORTANCE: Allogeneic hematopoietic stem cell transplantation is the standard intervention for childhood cerebral X-linked ad …
30 results