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List of works by Steven Mumm

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

scientific article

4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome

scientific article published in January 1997

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report

scientific article published on 01 July 2020

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

scientific article published on 01 September 2000

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere

scientific journal article

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases

scientific article

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

scientific article published on 4 April 2016

ATRAID regulates the action of nitrogen-containing bisphosphonates on bone

scientific article published on 01 May 2020

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy

scientific article published on 01 September 2007

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure

article

Adult hypophosphatasia treated with teriparatide

scientific article published on 09 January 2007

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

scientific article published on 14 January 2016

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

scientific article published on 17 June 2008

Bisphosphonate-induced osteopetrosis

scientific article published in July 2003

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

scientific article published on 28 August 2019

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family

scientific article published in January 2010

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

scientific article

CYP1A1: Ethnic and Population Differences in Allelic Frequencies and Interpretation of Bone Biology Studies

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

scientific article published on 01 April 2014

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand ⬇️

scientific article published on May 1, 2011

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

scientific article published on 01 August 2009

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

scientific article published in March 2008

Coalescing Expansile Skeletal Disease: Delineation Of An Extraordinary Osteopathy Involving The IFITM5 Mutation Of Osteogenesis Imperfecta Type V

scientific article published on 24 December 2020

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

scientific article published on 30 December 2015

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

scientific article

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

scientific article published on 01 February 2002

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

scientific article

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

scientific article published on 08 January 2020

Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density

scientific article published on 16 November 2004

Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density

scientific article published on 11 August 2009

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

scientific article published in November 2010

Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region

scientific article published in December 1999

Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution

scientific article published on 01 April 1997

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

scientific article

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1 ⬇️

scientific article published on March 1, 2012

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

scientific article published on 18 March 2020

Heritable disorders of the RANKL/OPG/RANK signaling pathway

scientific article

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

scientific article published on 27 July 2020

High-bone-mass disease and LRP5.

scientific article

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

scientific article (publication date: June 2006)

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia

scientific article published on 26 February 2020

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) ⬇️

scientific article published on October 1, 2011

Hypophosphatasia: molecular diagnosis of Rathbun's original case

scientific article published in September 2001

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

scientific article published on 27 February 2015

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

scientific article published on 13 December 2019

Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus

scientific article published on December 1998

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus

scientific article

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

scientific article (publication date: April 2004)

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

scientific article

Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059).

scientific article published in June 1999

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

scientific article published on 13 April 2020

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation ⬇️

scientific article published on June 1, 2013

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

scientific article

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

scientific article published on June 2007

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia

scientific article published on 20 January 2010

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

scientific article published in April 2015

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27

scientific article

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood

scientific article

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation.

scientific article

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

scientific article

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

scientific article published on 22 October 2005

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

scientific article

Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2.

scientific article published in March 1999

Marrow cell transplantation for infantile hypophosphatasia

scientific article (publication date: April 2003)

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

scientific article published on 20 April 2017

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

scientific article

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

scientific article published on 14 July 2015

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin

scientific article published on 23 November 2004

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

scientific article published on 11 May 2019

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

scientific article published on 28 February 2019

Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review)

scientific article published on 05 January 2021

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

scientific article published on 20 December 2004

Osteoprotegerin deficiency and juvenile Paget's disease

scientific article

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets

scientific article published in January 2015

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

scientific article published on April 2014

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

scientific article published on 28 May 2020

Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism

scientific article published on 01 April 2014

Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin ⬇️

scientific article published on 01 December 2001

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

scientific article

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

scientific article

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

scientific article

Refined genetic mapping of X-linked thoracoabdominal syndrome

scientific article published on 01 February 1996

Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

scientific article published on 10 June 2015

Response to: A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

article

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders ⬇️

scientific article published on October 31, 1997

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

scientific article published on 02 August 2018

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy ⬇️

scientific article published on February 1, 2013

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

scientific article

Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

scientific article published in December 2005

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects

scientific article published on 06 February 2007

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density

scientific article published on 15 October 2008

The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site

scientific article (publication date: 8 August 2001)

Transcription map of Xq27: candidates for several X-linked diseases

scientific article published in April 1999

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

scientific article published on 30 July 2018

WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia

retracted scientific article published on 18 November 2008

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

scientific article published on 8 August 2012

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

scientific article published on March 1997

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study)

scientific article published on 07 January 2020

X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes

scientific article published on 01 August 2001

YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter

scientific article published on 01 May 1996

YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers

scientific article published on 01 May 1996

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology

scientific article published on 27 February 2020

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation

scientific article

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia ⬇️

scientific article published on 01 May 2012

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